Varaico: Literature-Extracted Genetic Variants

Gene:RECQL
Variant:p.A195S
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RECQL

NM_002907.4:p.A195S

Associated Papers

Germline mutational landscape in a large cohort of Indian breast cancer.

Peter J et al.

Bmc Cancer, 2025

41327099 (PubMed )
Supplement: 12885_2025_15360_MOESM3_ESM.xlsx › Sheet1

RECQ1 Helicase in Genomic Stability and Cancer.

Debnath S et al.

Genes, 2020

The DNA repair helicase RECQ1 has a checkpoint-dependent role in mediating DNA damage responses induced by gemcitabine.

Parvathaneni S et al.

The Journal of Biological Chemistry, 2019

Rare missense mutations in RECQL and POLG associate with inherited predisposition to breast cancer.

Tervasmäki A et al.

International Journal of Cancer, 2018

Human RECQ Helicase Pathogenic Variants, Population Variation and "Missing" Diseases.

Fu W et al.

Human Mutation, 2017

Mutations in RECQL Gene Are Associated with Predisposition to Breast Cancer.

Sun J et al.

Plos Genetics, 2015

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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."