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ZMIZ1 c.-337+5658C>T
Variant ID: 10-80834685-C-T
NM_020338.4(
ZMIZ1
):c.-337+5658C>T
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:
A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant.
Plos One
Bolze, Alexandre A; Abhyankar, Avinash A; Grant, Audrey V AV; Patel, Bhavi B; Yadav, Ruchi R; Byun, Minji M; Caillez, Daniel D; Emile, Jean-Francois JF; Pastor-Anglada, Marçal M; Abel, Laurent L; Puel, Anne A; Govindarajan, Rajgopal R; de Pontual, Loic L; Casanova, Jean-Laurent JL
Publication Date: 2012
Variant appearance in text: rs4980022
PubMed Link:
22238637
Variant Present in the following documents:
Main text
pone.0029708.pdf
View BVdb publication page