Varaico: Literature-Extracted Genetic Variants

Gene:PMS1
Variant:p.K163insFs
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PMS1

NM_000534.5:p.K163insFs

Associated Papers

Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome.

Kauppinen AK et al.

International Journal of Cancer, 2025

40772756 (PubMed )
Supplement: IJC-157-2294-s002.xlsx › B_Tissue_as_normal

Establishment and characterization of 24 breast cancer cell lines and 3 breast cancer organoids reveals molecular heterogeneity and drug response variability in malignant pleural effusion-derived models.

Kim SC et al.

Breast Cancer Research : Bcr, 2025

40312397 (PubMed )
Supplement: 13058_2025_2032_MOESM6_ESM.xlsx › Supplementary_Table_3A

Germline predisposition in multiple myeloma.

Martins Rodrigues F et al.

Iscience, 2025

39845416 (PubMed )
Supplement: mmc1.pdf

Strategies for diagnosis and management of CMMRD in low-resource countries: report of a Tunisian family.

Abdelmaksoud-Dammak R et al.

Familial Cancer, 2024

CMMRD caused by PMS1 mutation in a sudanese consanguineous family.

Hamad RS et al.

Hereditary Cancer in Clinical Practice, 2022

Comprehensive characterization of the mutational landscape in multiple myeloma cell lines reveals potential drivers and pathways associated with tumor progression and drug resistance.

Vikova V et al.

Theranostics, 2019

30809292 (PubMed )
Supplement: thnov09p0540s1.pdf

Germline mutations in patients with multiple colorectal polyps in China.

Li CG et al.

Journal of Gastroenterology and Hepatology, 2017

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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."