PDGFB c.160+2T>A

Variant ID: 22-39631781-A-T

NM_002608.2(PDGFB):c.160+2T>A

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Living with primary brain calcification with PDGFB variants: A qualitative study.

Plos One
Takeuchi, Tomiko T; Aoyagi, Hisami H; Kuwako, Yoshimi Y; Hozumi, Isao I
Publication Date: 2022

Variant appearance in text: PDGFB: 160+2T>A
PubMed Link: 36206226
Variant Present in the following documents:
  • Main text
  • pone.0275227.pdf
View BVdb publication page



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: 160+2T>A
PubMed Link: 34025715
Variant Present in the following documents:
  • Main text
  • fgene-12-643452.pdf
View BVdb publication page