Publications:

Case Report: Two Novel Frameshift Mutations in SLC20A2 and One Novel Splice Donor Mutation in PDGFB Associated With Primary Familial Brain Calcification.

Frontiers In Genetics

Shen, Yuqi Y; Shu, Shi S; Ren, Yaqiong Y; Xia, Weibo W; Chen, Jianhua J; Dong, Liling L; Ge, Haijun H; Fan, Shiqi S; Shi, Lei L; Peng, Bin B; Zhang, Xue X

Publication Date: 2021

Variant appearance in text: PDGFB: Gln152del

PubMed Link: 34025715

Variant Present in the following documents:

• Main text
• fgene-12-643452.pdf

View BVdb publication page