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ENG c.687_688insA ;(p.G230Rfs*104)
Variant ID: 9-130587975-C-CT
NM_001114753.2(
ENG
):c.687_688insA;(p.G230Rfs*104)
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: ENG: G230fs
PubMed Link:
15879500
Variant Present in the following documents:
Main text
View BVdb publication page