Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.Q314_G315Splc
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MSH2

NM_000251.3:p.Q314_G315Splc

Associated Papers

Lynch syndrome diagnostic testing pathways in endometrial cancers: a nationwide English registry-based study.

Loong L et al.

Journal of Medical Genetics, 2024

39433398 (PubMed )
Supplement: jmg-61-12-s001.pdf

Approaches for Lynch syndrome screening and characteristics of subtypes with mismatch repair deficiency in patients with colorectal carcinoma.

Feng X et al.

International Journal of Cancer, 2024

39109916 (PubMed )
Supplement: supplement_1.pdf

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

[Founder mutation in Lynch syndrome].

Cajal AR et al.

Medicina, 2016

Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?

Rubie C et al.

Human Mutation, 2003

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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."