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Search Results for -
N-ACETYL TRANSFERASE DEFICIENCY
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Also searched for:
ACETYL-COA ALPHA-GLUCOSAMINIDE ACETYLTRANSFERASE DEFICIENCY
ACETYL-COA: HEPARAN-ALPHA-D-GLUCOSAMINIDE N-ACETYLTRANSFERASE DEFICIENCY
ACETYL-COA:ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE DEFICIENCY
HEPARAN-ALPHA-GLUCOSAMINIDE ACETYLTRANSFERASE DEFICIENCY
MPS IIIC
MPS III-C - MUCOPOLYSACCHARIDOSIS III-C
MPS3C
MPSIIIC - MUCOPOLYSACCHARIDOSIS TYPE IIIC
MUCOPOLYSACCHARIDOSIS III-C
MUCOPOLYSACCHARIDOSIS TYPE IIIC
MUCOPOLYSACCHARIDOSIS, MPS-III-C
SANFILIPPO SYNDROME C
SANFILIPPO SYNDROME, TYPE C
83130 results -
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NINDS Repository
(52555)
NIGMS Human Genetic Cell Repository
(15422)
NHGRI Sample Repository for Human Genetic Research
(7416)
NIA Aging Cell Culture Repository
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AREDS
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Autism
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HD Community Biorepository
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Allen Cell Collection
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Orphan Disease Center
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Centers for Disease Control and Prevention Repository
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Human Reference Genetic Material Repository
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Cerebrovascular Disease
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Control
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Heritable Diseases
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Parkinsonism
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Epilepsy
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NHGRI Sample Repository for Human Genetic Research
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Motor Neuron Disease
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Tourette Syndrome
(4379)
Dystonia
(3940)
Chromosome Abnormalities
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Human Variation
(1769)
Apparently Healthy Collection
(1710)
CEPH
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dbGaP
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Old Order Amish Major Affective Disorder
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PIGI Consented Sample
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University of Georgia Centenarian Study
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The 90+ Study
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Maryland
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Illinois
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Pennsylvania
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"Intra-abdominal fat and risk of disease in children and adolescents" study
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Pharmacogenetics
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Venezuelan Huntington Disease
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Disorders of the Urea Cycle
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Canadian Alzheimer Disease
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GeT-RM Samples
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Hereditary Cancers
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Maturity-Onset Diabetes of the Young
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CMD Specific
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Italian Alzheimer Disease
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Nonhuman Primates
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Stem Cell Collection
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Retinitis Pigmentosa Foundation Collection
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DGAP
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Whole-Genome Sequence
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Ames Dwarf Mice
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FOXG1
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Oregon
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Wisconsin
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Johns Hopkins University
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FFPE
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Affected:
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(42315)
No
(18204)
At Risk
(6014)
Unknown
(3149)
Mutation Data Available:
N
(81311)
Y
(1819)
Source:
Whole Blood
(30635)
B-Lymphocyte
(24538)
LCL
(21227)
Fibroblast
(1265)
Skin, Arm
(1008)
Skin, Unspecified
(345)
Somatic cell hybrid
(252)
Skin, Skin
(141)
Skin, Foreskin
(123)
Lung, Lung
(105)
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(65)
Amniotic fluid
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Aorta, thoracic
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(44)
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Brain striatum
(13)
Blood
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Trachealis muscle
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Fetal, Unspecified
(11)
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(11)
Gonad, Gonad
(10)
Skin, Leg
(10)
Skin, Thorax/abdomen
(10)
Artery, iliac
(9)
Artery, pulmonary
(9)
Skin, Buttock
(9)
Skin, Thorax
(9)
Umbilical Cord, Umbilical cord
(9)
Skin, Inguinal area
(8)
Skin, Sacrum
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Whole embryo, Embryo
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Skin, Buttock-thigh
(7)
Breast organoid
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Gonad, Ovary
(6)
Conjunctiva, Conjunctiva
(5)
Epithelial
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Liver, Liver
(5)
Muscle, Unspecified
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Retina of eye
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Skin, Back
(5)
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(5)
Skin, Right ischium
(5)
Chorionic villus
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Embryonal carcinoma
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Eye
(4)
Gingival, Gum
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Gonad, Testes
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Placental, Placenta
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Skin, Hip
(4)
Chorionic villus-derived cell line
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Kidney, Kidney
(3)
Leiomyoma
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Skin, Genital area
(3)
Skin, Toe
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Smooth muscle
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Tumor-derived cell line
(3)
Amnion, Amnion
(2)
Aorta, abdominal
(2)
Aortic arch
(2)
Ascites fluid
(2)
Bladder carcinoma
(2)
Endometrial, Uterus
(2)
Kidney
(2)
Lung
(2)
Mesothelial
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Skin, Calf
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Adenocarcinoma
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Adrenal cortex tumor
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Artery, Aorta, thoracic
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Artery, carotid
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Ascites fluid, Ascites fluid
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Cornea, Cornea
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Endothelial
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Fetal, Arm
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Heart, Pericardium
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Heart, Unspecified
(1)
Hydatidiform mole
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Ligament, Teeth
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Osteosarcoma
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Peripheral Vein
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(41760)
Male
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Other
(22)
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(7464)
More than one race
(1636)
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(766)
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East Indian
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Korean
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Japanese
(2)
dbGap Data Available:
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(69763)
Yes
(13367)
Extended Clinical Data Available:
Yes
(53132)
No
(29998)
Age at Sampling (Years):
55-64
(11731)
45-54
(10980)
65-74
(9614)
35-44
(8609)
25-34
(6232)
75-89
(5518)
5-14
(5308)
15-24
(5062)
0-4
(3381)
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100+
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