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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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