Varaico: Literature-Extracted Genetic Variants

Gene:MSH5
Variant:p.P786S
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MSH5

NM_172166.4:p.P786S

Associated Papers

Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.

de Valles-Ibáñez G et al.

Frontiers in Immunology, 2018

29867916 (PubMed )
Supplement: data_sheet_1.PDF

MutS Homologues hMSH4 and hMSH5: Genetic Variations, Functions, and Implications in Human Diseases.

Clark N et al.

Current Genomics, 2013

MutS homologue hMSH5: recombinational DSB repair and non-synonymous polymorphic variants.

Wu X et al.

Plos One, 2013

High-density SNP mapping of the HLA region identifies multiple independent susceptibility loci associated with selective IgA deficiency.

Ferreira RC et al.

Plos Genetics, 2012

MSH5 is not a genetic predisposing factor for immunoglobulin A deficiency but marks the HLA-DRB1*0102 subgroup carrying susceptibility.

Pozo ND et al.

Human Immunology, 2010

Antibody deficiency diseases.

Pan-Hammarström Q et al.

European Journal of Immunology, 2008

MutS homologues hMSH4 and hMSH5: diverse functional implications in humans.

Her C et al.

Frontiers in Bioscience : a Journal and Virtual Library, 2007

Variants in the ATM-BRCA2-CHEK2 axis predispose to chronic lymphocytic leukemia.

Rudd MF et al.

Blood, 2006

Variants in the GH-IGF axis confer susceptibility to lung cancer.

Rudd MF et al.

Genome Research, 2006

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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."