Varaico: Literature-Extracted Genetic Variants

Gene:OCLN
Variant:p.E442*
Back to variants list

OCLN

NM_001205254.2:p.E442*

Associated Papers

A Report of Dual Presentations of Pseudo-TORCH Syndrome 1 and MCC2 Deficiency and Review of the Literature.

Talea A et al.

Molecular Syndromology, 2025

Genomic analysis of multiplex consanguineous families reveals causes of neurodevelopmental disorders with epilepsy.

Shafique A et al.

Gene, 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."