Project: PRJNA592218
We identified a Chinese Coffin-Siris syndrome patient cayyring a novel missense variant of SMARCA4 through WGS and aimed at expanding the genetic and phenotypic spectrum of Coffin-Siris syndrome.
Secondary Study Accession:
SRP233515
Study Title:
The whole-exon sequencing data of a Chinese Coffin-Siris syndrome patient
Center Name:
Xiangya Hospital, Central South University
ENA-REFSEQ:
N
PROJECT-ID:
592218
ENA-FIRST-PUBLIC:
2020-12-09
ENA-LAST-UPDATE:
2023-05-19
General