Varaico: Literature-Extracted Genetic Variants

Gene:EXOC8
Variant:p.E265G
Back to variants list

EXOC8

NM_175876.5:p.E265G

Associated Papers

A novel nonsense variant in EXOC8 underlies a neurodevelopmental disorder.

Ullah A et al.

Neurogenetics, 2022

Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival.

Coulter ME et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

Exome sequencing can improve diagnosis and alter patient management.

Dixon-Salazar TJ et al.

Science Translational Medicine, 2012

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."