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APOB c.1064dup ;(p.R356Efs*5)
Variant ID: 2-21256230-C-CA
NM_000384.2(
APOB
):c.1064dup;(p.R356Efs*5)
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:
APOB CRISPR-Cas9 Engineering in Hypobetalipoproteinemia: A Promising Tool for Functional Studies of Novel Variants.
International Journal Of Molecular Sciences
Vanhoye, Xavier X; Janin, Alexandre A; Caillaud, Amandine A; Rimbert, Antoine A; Venet, Fabienne F; Gossez, Morgane M; Dijk, Wieneke W; Marmontel, Oriane O; Nony, Séverine S; Chatelain, Charlotte C; Durand, Christine C; Lindenbaum, Pierre P; Rieusset, Jennifer J; Cariou, Bertrand B; Moulin, Philippe P; Di Filippo, Mathilde M
Publication Date: 2022-04-13
Variant appearance in text: APOB: 1064dup; Arg356Glufs*5
PubMed Link:
35457099
Variant Present in the following documents:
Main text
ijms-23-04281.pdf
View BVdb publication page