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.




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