LDLR c.941G>C ;(p.G314A)

Variant ID: 19-11221328-G-C

NM_000527.4(LDLR):c.941G>C;(p.G314A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Molecular spectrum of autosomal dominant hypercholesterolemia in France.

Human Mutation
Marduel, Marie M; Carrié, Alain A; Sassolas, Agnes A; Devillers, Martine M; Carreau, Valérie V; Di Filippo, Mathilde M; Erlich, Danièle D; Abifadel, Marianne M; Marques-Pinheiro, Alice A; Munnich, Arnold A; Junien, Claudine C; , ; Boileau, Catherine C; Varret, Mathilde M; Rabès, Jean-Pierre JP
Publication Date: 2010-11

Variant appearance in text: LDLR: Gly314Ala
PubMed Link: 20809525
Variant Present in the following documents:
  • Main text
  • humu0031-E1811.pdf
View BVdb publication page