Varaico: Literature-Extracted Genetic Variants

Gene:POU3F3
Variant:p.Q357R
Back to variants list

POU3F3

NM_006236.3:p.Q357R

Associated Papers

A novel pathogenic variant causing POU3F3-related neurodevelopmental disorder in a child presenting with infantile epileptic spasms syndrome: Expanding the epileptic phenotype.

Terrone G et al.

Seizure, 2025

POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.

Rossi A et al.

Clinical Genetics, 2023

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."