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GDF2 c.1211T>G ;(p.L404R)
Variant ID: 10-48413657-A-C
NM_016204.1(
GDF2
):c.1211T>G;(p.L404R)
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 and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia.
Plos One
Alaa El Din, Ferdos F; Patri, Sylvie S; Thoreau, Vincent V; Rodriguez-Ballesteros, Montserrat M; Hamade, Eva E; Bailly, Sabine S; Gilbert-Dussardier, Brigitte B; Abou Merhi, Raghida R; Kitzis, Alain A
Publication Date: 2015
Variant appearance in text: BMP9: 1211T>G
PubMed Link:
26176610
Variant Present in the following documents:
Main text
pone.0132111.pdf
View BVdb publication page