Publication
| Riccardi F, Romano G, Licastro D, Pagani F, Age-dependent regulation of ELP1 exon 20 splicing in Familial Dysautonomia by RNA Polymerase II kinetics and chromatin structure PloS one19:e0298965 2024 |
| PubMed ID: 38829854 |
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| Records Return:
(2)
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| Catalog ID | Sex | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
| GM04589 | Male | 16 YR | 756 | proband | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 | GM |
| GM02674 | Female | 29 YR | | proband | APPARENTLY HEALTHY INDIVIDUAL | GM |
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