Varaico: Literature-Extracted Genetic Variants

Gene:MAN2B1
Variant:p.R188*
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MAN2B1

NM_000528.4:p.R188*

Associated Papers

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9

A multi-species comparative structural bioinformatics analysis of inherited mutations in alpha-D-mannosidase reveals strong genotype-phenotype correlation.

Khan JM et al.

Bmc Genomics, 2009

Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis.

Sbaragli M et al.

Human Mutation, 2005

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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."