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LDLRAP1 c.748dup ;(p.E250Gfs*4)
Variant ID: 1-25891662-A-AG
NM_015627.2(
LDLRAP1
):c.748dup;(p.E250Gfs*4)
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 Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease.
Frontiers In Genetics
Kamar, Amina A; Khalil, Athar A; Nemer, Georges G
Publication Date: 2020
Variant appearance in text: LDLRAP1: Glu250Glyfs*4
PubMed Link:
33519890
Variant Present in the following documents:
Main text
fgene-11-572045.pdf
View BVdb publication page