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LDLR c.2502_2504del ;(p.D834del)
Variant ID: 19-11240298-GGAT-G
NM_000527.4(
LDLR
):c.2502_2504del;(p.D834del)
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 testing of Korean familial hypercholesterolemia using whole-exome sequencing.
Plos One
Han, Soo Min SM; Hwang, Byungjin B; Park, Tae-gun TG; Kim, Do-Il DI; Rhee, Moo-Yong MY; Lee, Byoung-Kwon BK; Ahn, Young Keun YK; Cho, Byung Ryul BR; Woo, Jeongtaek J; Hur, Seung-Ho SH; Jeong, Jin-Ok JO; Park, Sungha S; Jang, Yangsoo Y; Lee, Min Goo MG; Bang, Duhee D; Lee, Ji Hyun JH; Lee, Sang-Hak SH
Publication Date: 2015
Variant appearance in text: LDLR: 2500_2502delGAT
PubMed Link:
25962062
Variant Present in the following documents:
Main text
pone.0126706.pdf
View BVdb publication page