Varaico: Literature-Extracted Genetic Variants

Gene:MAN2B1
Variant:p.L565P
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MAN2B1

NM_000528.4:p.L565P

Associated Papers

A new view of missense mutations in α-mannosidosis using molecular dynamics conformational ensembles.

Mandl Š et al.

Protein Science : a Publication of the Protein Society, 2025

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

Lipiński P et al.

Molecular Genetics and Metabolism Reports, 2022

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

Riise Stensland HM et al.

Human Mutation, 2012

Molecular and cellular characterization of novel {alpha}-mannosidosis mutations.

Kuokkanen E et al.

Human Molecular Genetics, 2011

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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."