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LDLR c.524A>G ;(p.D175G)
Variant ID: 19-11216106-A-G
NM_000527.4(
LDLR
):c.524A>G;(p.D175G)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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: 524A>G; D175G
PubMed Link:
30400955
Variant Present in the following documents:
Main text
12944_2018_Article_900.pdf
View BVdb publication page