APOB c.1059T>C ;(p.T353=)

Variant ID: 2-21256236-A-G

NM_000384.2(APOB):c.1059T>C;(p.T353=)

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: 1059T>C; Thr353=
PubMed Link: 35457099
Variant Present in the following documents:
  • Main text
  • ijms-23-04281.pdf
View BVdb publication page