Varaico: Literature-Extracted Genetic Variants

Gene:TBCE
Variant:p.L171H
Back to variants list

TBCE

NM_001287802.2:p.L171H

Associated Papers

Out-of-frame Translation Rescues a Loss-of-function Variant in a Novel TBCE Phenotype.

Sparber P et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

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."