LDLR c.678dup ;(p.D227*)

Variant ID: 19-11216259-C-CT

NM_000527.4(LDLR):c.678dup;(p.D227*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.

Journal Of Medical Genetics
Humphries, S E SE; Whittall, R A RA; Hubbart, C S CS; Maplebeck, S S; Cooper, J A JA; Soutar, A K AK; Naoumova, R R; Thompson, G R GR; Seed, M M; Durrington, P N PN; Miller, J P JP; Betteridge, D J B DJ; Neil, H A W HA; ,
Publication Date: 2006-12

Variant appearance in text: N/A
PubMed Link: 17142622
Variant Present in the following documents:
View BVdb publication page