Varaico: Literature-Extracted Genetic Variants

Gene:TSPEAR
Variant:p.V576L
Back to variants list

TSPEAR

NM_144991.3:p.V576L

Associated Papers

TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.

Bowles B et al.

American Journal of Medical Genetics. Part A, 2021

Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness.

Delmaghani S et al.

Human Molecular Genetics, 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."