Gene4Denovo2 is an updated, free platform for human de novo mutations (DNMs) discovery and interpretation, featuring expanded datasets (1,626,050 DNMs from 130,439 individuals across 96 phenotypes, pl
Spalt-like 4 (SALL4) maintains vertebrate embryonic stem cell identity and is required for the development of multiple organs, including limbs. Mutations in SALL4 are associated with Okihiro syndrome
Scottish Government Open Data Portal2022-12-05 更新50
To investigate pathogenic mechnism of hearing loss in inner ear organoids in PAX3 gene mutation of WS1 patient in vitro , we established the iPSCs line from one WS1 patient carrying a heterozygous mut
