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LDLR c.385G>T ;(p.D129Y)
Variant ID: 19-11215967-G-T
NM_000527.4(
LDLR
):c.385G>T;(p.D129Y)
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:
The distribution and characteristics of LDL receptor mutations in China: A systematic review.
Scientific Reports
Jiang, Long L; Sun, Li-Yuan LY; Dai, Yan-Fang YF; Yang, Shi-Wei SW; Zhang, Feng F; Wang, Lu-Ya LY
Publication Date: 2015-11-26
Variant appearance in text: LDLR: 385G>T
PubMed Link:
26608663
Variant Present in the following documents:
Main text
View BVdb publication page