Varaico: Literature-Extracted Genetic Variants

Gene:ZMIZ1
Variant:p.T294I
Back to variants list

ZMIZ1

NM_020338.4:p.T294I

Associated Papers

ZMIZ1-Associated Neurodevelopmental Disorder in a 52-Year-Old Woman.

Rogan S et al.

American Journal of Medical Genetics. Part A, 2026

A novel ZMIZ1 variant associated with NEDDFSA and new ocular features: case report and review of literature.

Javidi E et al.

Ophthalmic Genetics, 2025

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."