EGAS00001000775-sc-2023-03-15T11:18:45Z - samples

ABSTRACT: Candidate diagnostic variants reported into DECIPHER by 4 April 2022, annotated with clinical and automated pathogenicity assertions (see DOI: 10.1056/NEJMoa2209046). Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland, Wright et al, NEJM 2023.

PROVIDER: EGAD00001010137 | EGA |

REPOSITORIES: EGA