Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.H388fs
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PMS2

NM_000535.7:p.H388fs

Associated Papers

Molecular analysis of cancer genomes in children with Lynch syndrome: Exploring causal associations.

Weijers DD et al.

International Journal of Cancer, 2024

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 › MSH6

Implementation of paediatric precision oncology into clinical practice: The Individualized Therapies for Children with cancer program 'iTHER'.

Langenberg KPS et al.

European Journal of Cancer (oxford, England : 1990), 2022

36182817 (PubMed )
Supplement: mmc6.xlsx › Sheet1

No Evidence of Abnormal Expression of Beta-Catenin and Bcl-2 Proteins in Pilomatricoma as One Clinical Feature of Tetrasomy 9p Syndrome.

Charalsawadi C et al.

International Journal of Pediatrics, 2021

34956371 (PubMed )
Supplement: 2612846.f1.pdf

Constitutional Mismatch Repair Gene Defect Syndrome Presenting With Adenomatous Polyposis and Cafe au Lait Spots: A Case Report.

Sağ E et al.

Journal of Pediatric Hematology/oncology, 2020

Multiple pilomatricomas with somatic CTNNB1 mutations in children with constitutive mismatch repair deficiency.

Chmara M et al.

Genes, Chromosomes & Cancer, 2013

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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."