Varaico: Literature-Extracted Genetic Variants

Gene:MAN2B1
Variant:p.G199G
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MAN2B1

NM_000528.4:p.G199G

Associated Papers

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

Riise Stensland HM et al.

Human Mutation, 2012

Funtional characterization of four novel MAN2B1 mutations causing juvenile onset alpha-mannosidosis.

Pittis MG et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2007

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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."