Varaico: Literature-Extracted Genetic Variants

Gene:MANBA
Variant:p.Y485delFs
Back to variants list

MANBA

NM_005908.4:p.Y485delFs

Associated Papers

Expanding the Phenotype Spectrum of β-Mannosidosis.

Martin Rios AM et al.

Neurology. Genetics, 2025

Identification of two novel beta-mannosidosis-associated sequence variants: biochemical analysis of beta-mannosidase (MANBA) missense mutations.

Riise Stensland HMF et al.

Molecular Genetics and Metabolism, 2008

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."