LDLR c.380T>A ;(p.V127D)

Variant ID: 19-11215962-T-A

NM_000527.4(LDLR):c.380T>A;(p.V127D)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genotypic and phenotypic features of dyslipidemia in a sample of pediatric patients in China.

Bmc Pediatrics
Zhang, Qianwen Q; Chang, Guoying G; Tang, Yijun Y; Gu, Shili S; Ding, Yu Y; Chen, Yao Y; Wang, Yirou Y; Liu, Shijian S; Wang, Jian J; Wang, Xiumin X
Publication Date: 2023-03-29

Variant appearance in text: LDLR: Val127Asp
PubMed Link: 36991406
Variant Present in the following documents:
  • Main text
  • 12887_2023_Article_3952.pdf
View BVdb publication page



The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.

Metabolism: Clinical And Experimental
Sharifi, Mahtab M; Walus-Miarka, Małgorzata M; Idzior-Waluś, Barbara B; Malecki, Maciej T MT; Sanak, Marek M; Whittall, Ros R; Li, Ka Wah KW; Futema, Marta M; Humphries, Steve E SE
Publication Date: 2016-03

Variant appearance in text: LDLR: Val127Asp
PubMed Link: 26892515
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page