Variant ID: 1-55523034-G-C

NM_174936.3(PCSK9):c.1027G>C;(p.D343H)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia.

Journal Of Medical Genetics
Futema, Marta M; Plagnol, Vincent V; Whittall, Ros A RA; Neil, H Andrew W HA; , ; Humphries, Steve Eric SE; ,
Publication Date: 2012-10

Variant appearance in text: PCSK9: 1027G>C; D343H
PubMed Link: 23054246
Variant Present in the following documents:
  • Main text
View BVdb publication page