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LDLR c.817+1G>C
Variant ID: 19-11217364-G-C
NM_000527.4(
LDLR
):c.817+1G>C
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:
Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia.
Journal Of Atherosclerosis And Thrombosis
Huang, Chin-Chou CC; Niu, Dau-Ming DM; Charng, Min-Ji MJ
Publication Date: 2022-05-01
Variant appearance in text: rs879254685
PubMed Link:
33994402
Variant Present in the following documents:
jat-29-639.pdf
View BVdb publication page
Gene panel for Mendelian strokes.
Stroke And Vascular Neurology
Fang, Fang F; Xu, Zhe Z; Suo, Yue Y; Wang, Hui H; Cheng, Si S; Li, Hao H; Li, Wei W; Wang, Yongjun Y
Publication Date: 2020-12
Variant appearance in text: LDLR: 817+1G>C
PubMed Link:
32341005
Variant Present in the following documents:
svn-2020-000352supp003.pdf
View BVdb publication page