Varaico: Literature-Extracted Genetic Variants

Gene:MAN2B1
Variant:p.R756Splc
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MAN2B1

NM_000528.4:p.R756Splc

Associated Papers

α-mannosidosis diagnosis in Brazilian patients with MPS-like symptoms.

Marins M et al.

Orphanet Journal of Rare Diseases, 2024

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."