Varaico: Literature-Extracted Genetic Variants

Gene:MAN2B1
Variant:p.Q237*
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MAN2B1

NM_000528.4:p.Q237*

Associated Papers

Genetic assessment of pathogenic germline alterations in lysosomal genes among Asian patients with pancreatic ductal adenocarcinoma.

Koh Y et al.

Journal of Translational Medicine, 2023

37848935 (PubMed )
Supplement: 12967_2023_4549_MOESM6_ESM.xlsx › Sheet1

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."