Varaico: Literature-Extracted Genetic Variants

Gene:TMEM94
Variant:p.T667_S668insFs
Back to variants list

TMEM94

NM_014738.6:p.T667_S668insFs

Associated Papers

Fetal Anomalies Associated with Novel Pathogenic Variants in TMEM94.

Al-Hamed MH et al.

Genes, 2020

Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.

Stephen J et al.

American Journal of Human Genetics, 2018

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."