GDF2 c.1137G>T ;(p.L379=)

Variant ID: 10-48413731-C-A

NM_016204.1(GDF2):c.1137G>T;(p.L379=)

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: 1137G>T
PubMed Link: 26176610
Variant Present in the following documents:
  • Main text
  • pone.0132111.pdf
View BVdb publication page