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ACVRL1 c.352C>T ;(p.Q118*)
Variant ID: 12-52307381-C-T
NM_000020.2(
ACVRL1
):c.352C>T;(p.Q118*)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia.
Bmc Medical Genomics
Kitayama, Kana K; Ishiguro, Tomoya T; Komiyama, Masaki M; Morisaki, Takayuki T; Morisaki, Hiroko H; Minase, Gaku G; Hamanaka, Kohei K; Miyatake, Satoko S; Matsumoto, Naomichi N; Kato, Masaru M; Takahashi, Toru T; Yorifuji, Tohru T
Publication Date: 2021-12-06
Variant appearance in text: ACVRL1: Gln118*
PubMed Link:
34872578
Variant Present in the following documents:
Main text
12920_2021_Article_1139.pdf
12920_2021_1139_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page
Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.
Journal Of Medical Genetics
Abdalla, S A SA; Letarte, M M
Publication Date: 2006-02
Variant appearance in text:
PubMed Link:
15879500
Variant Present in the following documents:
Main text
View BVdb publication page