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APOB c.1531_1532delinsTC ;(p.L511S)
Variant ID: 2-21252596-AG-GA
NM_000384.2(
APOB
):c.1531_1532delinsTC;(p.L511S)
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:
Cholesterol Levels in Genetically Determined Familial Hypercholesterolaemia in Russian Karelia.
Cholesterol
Korneva, V A VA; Kuznetsova, T Yu TY; Bogoslovskaya, T Yu TY; Polyakov, D S DS; Vasilyev, V B VB; Orlov, A V AV; Mandelshtam, M Yu MY
Publication Date: 2017
Variant appearance in text: APOB: Leu511Ser
PubMed Link:
28458923
Variant Present in the following documents:
Main text
CHOLESTEROL2017-9375818.pdf
View BVdb publication page