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.




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