PDGFB c.329T>C ;(p.L110P)

Variant ID: 22-39627754-A-G

NM_002608.2(PDGFB):c.329T>C;(p.L110P)

This variant was identified in 1 publication

View GRCh38 version.




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: 329T>C
PubMed Link: 34025715
Variant Present in the following documents:
  • Main text
  • fgene-12-643452.pdf
View BVdb publication page