Varaico: Literature-Extracted Genetic Variants

Gene:MAN2B1
Variant:p.E751*
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MAN2B1

NM_000528.4:p.E751*

Associated Papers

Long-term outcome of patients with alpha-mannosidosis - A single center study.

Lipiński P et al.

Molecular Genetics and Metabolism Reports, 2022

Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.

Borgwardt L et al.

Orphanet Journal of Rare Diseases, 2015

Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations.

Riise Stensland HM et al.

Human Mutation, 2012

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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."