Varaico: Literature-Extracted Genetic Variants

Gene:MANBA
Variant:p.W466delFs
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MANBA

NM_005908.4:p.W466delFs

Associated Papers

Genetic testing for phenotype-causing variants in sheep and goats.

Lühken G

Molecular and Cellular Probes, 2012

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

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

A critical analysis of disease-associated DNA polymorphisms in the genes of cattle, goat, sheep, and pig.

Ibeagha-Awemu EM et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2008

Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutation.

Molho-Pessach V et al.

Journal of the American Academy of Dermatology, 2007

Hereditary β-mannosidosis in a dog: Clinicopathological and molecular genetic characterization.

Bolfa P et al.

Molecular Genetics and Metabolism, 0

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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."