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GDF2 c.718_720delinsTTT ;(p.L240F)
Variant ID: 10-48414148-CAG-AAA
NM_016204.1(
GDF2
):c.718_720delinsTTT;(p.L240F)
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:
Context-specific interactions between Notch and ALK1 cannot explain ALK1-associated arteriovenous malformations.
Cardiovascular Research
Rochon, Elizabeth R ER; Wright, Daniel S DS; Schubert, Max M MM; Roman, Beth L BL
Publication Date: 2015-07-01
Variant appearance in text: BMP9: L240F
PubMed Link:
25969392
Variant Present in the following documents:
Main text
View BVdb publication page