LDLR c.2025C>A ;(p.G675=)

Variant ID: 19-11231083-C-A

NM_000527.4(LDLR):c.2025C>A;(p.G675=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.

Metabolism: Clinical And Experimental
Sharifi, Mahtab M; Walus-Miarka, Małgorzata M; Idzior-Waluś, Barbara B; Malecki, Maciej T MT; Sanak, Marek M; Whittall, Ros R; Li, Ka Wah KW; Futema, Marta M; Humphries, Steve E SE
Publication Date: 2016-03

Variant appearance in text: LDLR: Gly675Gly
PubMed Link: 26892515
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page