Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.N657insFs
Back to variants list

PMS2

NM_000535.7:p.N657insFs

Associated Papers

The genetic landscape of Lynch syndrome in the Israeli population.

Abu Shtaya A et al.

Familial Cancer, 2024

Targeted genotyping for recurring variants in cancer susceptibility genes in non-Ashkenazi Jewish patients with breast cancer diagnosed ≥50 years.

Bernstein-Molho R et al.

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 › MLH1

The Diagnostic Yield and Implications of Targeted Founder Pathogenic Variant Testing in an Israeli Cohort.

Abu Shtaya A et al.

Cancers, 2023

Yield of targeted genotyping for the recurring pathogenic variants in cancer susceptibility genes in a healthy, multiethnic Israeli population.

Bernstein-Molho R et al.

Cancer, 2021

Ancestry-specific hereditary cancer panel yields: Moving toward more personalized risk assessment.

Roberts ME et al.

Journal of Genetic Counseling, 2020

Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity.

Baris HN et al.

Pediatric Blood & Cancer, 2016

Genetic features of Lynch syndrome in the Israeli population.

Goldberg Y et al.

Clinical Genetics, 2015

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."