LDLR c.394del ;(p.R132Gfs*74)

Variant ID: 19-11215974-AC-A

NM_000527.4(LDLR):c.394del;(p.R132Gfs*74)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Genetic basis of index patients with familial hypercholesterolemia in Chinese population: mutation spectrum and genotype-phenotype correlation.

Lipids In Health And Disease
Sun, Di D; Zhou, Bing-Yang BY; Li, Sha S; Sun, Ning-Ling NL; Hua, Qi Q; Wu, Shu-Lin SL; Cao, Yun-Shan YS; Guo, Yuan-Lin YL; Wu, Na-Qiong NQ; Zhu, Cheng-Gang CG; Gao, Ying Y; Cui, Chuan-Jue CJ; Liu, Geng G; Li, Jian-Jun JJ
Publication Date: 2018-11-06

Variant appearance in text: LDLR: 393delC
PubMed Link: 30400955
Variant Present in the following documents:
  • Main text
  • 12944_2018_Article_900.pdf
View BVdb publication page