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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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