LDLR c.129G>C ;(p.K43N)

Variant ID: 19-11210960-G-C

NM_000527.4(LDLR):c.129G>C;(p.K43N)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Effects of familial hypercholesterolemia-associated genes on the phenotype of premature myocardial infarction.

Lipids In Health And Disease
Lee, Chongyou C; Cui, Yuxia Y; Song, Junxian J; Li, Sufang S; Zhang, Feng F; Wu, Manyan M; Li, Long L; Hu, Dan D; Chen, Hong H
Publication Date: 2019-04-11

Variant appearance in text: LDLR: 129G>C; Lys43Asn
PubMed Link: 30971288
Variant Present in the following documents:
  • Main text
  • 12944_2019_Article_1042.pdf
View BVdb publication page



Prevalence of familial hypercholesterolemia in patients with premature myocardial infarction.

Clinical Cardiology
Cui, Yuxia Y; Li, Sufang S; Zhang, Feng F; Song, Junxian J; Lee, Chongyou C; Wu, Manyan M; Chen, Hong H
Publication Date: 2019-03

Variant appearance in text: LDLR: 129G>C; Lys43Asn
PubMed Link: 30637778
Variant Present in the following documents:
  • Main text
  • CLC-42-385.pdf
View BVdb publication page