Whole exome sequencing data for patients with Bosma arhinia microphthalmia syndrome (BAMS).

ABSTRACT: The datasets includes 21 samples from 7 families with Bosma arhinia microphthalmia (BAMS). For details of the study please refer to the manuscript "De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development", Nature Genetics 2017. Each sample was exome sequenced and the family ID in sample description refers to the Individual ID in Supplementary figure 2 of the manuscript.

PROVIDER: EGAS00001002193 | EGA |

REPOSITORIES: EGA