PDGFB c.342_343insG ;(p.N115Efs*52)

Variant ID: 22-39627740-T-TC

NM_002608.2(PDGFB):c.342_343insG;(p.N115Efs*52)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Functional evaluation of PDGFB-variants in idiopathic basal ganglia calcification, using patient-derived iPS cells.

Scientific Reports
Sekine, Shin-Ichiro SI; Kaneko, Masayuki M; Tanaka, Masaki M; Ninomiya, Yuhei Y; Kurita, Hisaka H; Inden, Masatoshi M; Yamada, Megumi M; Hayashi, Yuichi Y; Inuzuka, Takashi T; Mitsui, Jun J; Ishiura, Hiroyuki H; Iwata, Atsushi A; Fujigasaki, Hiroto H; Tamaki, Hisamitsu H; Tamaki, Ryusei R; Kito, Shinsuke S; Taguchi, Yoshiharu Y; Tanaka, Kortaro K; Atsuta, Naoki N; Sobue, Gen G; Kondo, Takayuki T; Inoue, Haruhisa H; Tsuji, Shoji S; Hozumi, Isao I
Publication Date: 2019-04-05

Variant appearance in text: PDGFB: 342_343insG
PubMed Link: 30952898
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_42115.pdf
View BVdb publication page