Varaico: Literature-Extracted Genetic Variants

Gene:MANBA
Variant:p.E672Splc
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MANBA

NM_005908.4:p.E672Splc

Associated Papers

A comparative structural bioinformatics analysis of inherited mutations in β-D-Mannosidase across multiple species reveals a genotype-phenotype correlation.

Huynh T et al.

Bmc Genomics, 2011

22369051 (PubMed )
Supplement: 1471-2164-12-S3-S22-S2.pdf

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

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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."