Publication
| Lima BA, Pais AC, Dupont J, Dias P, Custódio N, Sousa AB, Carmo-Fonseca M, Carvalho C, Genetic modulation of RNA splicing rescues BRCA2 function in mutant cells Life science alliance8: 2025 |
| PubMed ID: 39741007 |
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| Records Return:
(4)
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| Catalog ID | Sex | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
| GM20172 | Female | 17 YR | 2449 | proband | DEAFNESS, AUTOSOMAL RECESSIVE 49; DFNB49 | GM |
| GM12878 | Female | | 1463 | mother | CEPH/UTAH PEDIGREE 1463 | GM |
| GM16113 | Male | 27 YR | | proband | APPARENTLY HEALTHY INDIVIDUAL | GM |
| GM22129 | Male | 11 YR | | proband | BARTH SYNDROME; BTHS | GM |
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