Varaico: Literature-Extracted Genetic Variants

Gene:TENM3
Variant:p.Q2003fs
Back to variants list

TENM3

NM_001080477.4:p.Q2003fs

Associated Papers

Microcornea, iris and choroidal coloboma, and global developmental delay caused by TENM3 pathogenic variants in a Chinese patient.

Zhou Y et al.

Molecular Genetics & Genomic Medicine, 2022

Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update.

Maddirevula S et al.

Frontiers in Genetics, 2020

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."