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ACVRL1 c.172G>T ;(p.E58*)
Variant ID: 12-52306993-G-T
NM_000020.2(
ACVRL1
):c.172G>T;(p.E58*)
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:
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