Varaico: Literature-Extracted Genetic Variants

Gene:UCHL1
Variant:p.K115delFs
Back to variants list

UCHL1

NM_004181.5:p.K115delFs

Associated Papers

Phenotypic variability related to dominant UCHL1 mutations: about three families with optic atrophy and ataxia.

Marelli C et al.

Journal of Neurology, 2024

Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure.

Hardy JJ et al.

Human Genetics, 2021

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."