Varaico: Literature-Extracted Genetic Variants

Gene:MAN2B1
Variant:p.M812_V813Splc
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MAN2B1

NM_000528.4:p.M812_V813Splc

Associated Papers

Unveiling alpha-mannosidosis in Iraqi children: A series of clinically and genetically characterized cases with novel MAN2B1 variant.

Al Tai MR et al.

Molecular Genetics and Metabolism Reports, 2026

Carrier frequency and incidence of alpha-mannosidosis: population database-based study-focus on the East Asian and Korean population.

Park JE et al.

Frontiers in Genetics, 2023

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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