Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.M152fs
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MSH2

NM_000251.3:p.M152fs

Associated Papers

Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.

Lei H et al.

Human Genomics, 2024

38287404 (PubMed )
Supplement: 40246_2024_573_MOESM3_ESM.xls › MSH2

Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.

Sjursen W et al.

Molecular Genetics & Genomic Medicine, 2016

Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.

Lavoine N et al.

Journal of Medical Genetics, 2015

Constitutional mismatch repair deficiency-associated brain tumors: report from the European C4CMMRD consortium.

Guerrini-Rousseau L et al.

Neuro-oncology Advances, 0

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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."