Varaico: Literature-Extracted Genetic Variants

Gene:RECQL5
Variant:p.R770*
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RECQL5

NM_004259.7:p.R770*

Associated Papers

A comprehensive analysis of germline predisposition to early-onset ovarian cancer.

Horackova K et al.

Scientific Reports, 2024

39003285 (PubMed )
Supplement: 41598_2024_66324_MOESM1_ESM.xlsx › S3_GPV_list

Genetic Risk Factors for Early-Onset Merkel Cell Carcinoma.

Mohsin N et al.

Jama Dermatology, 2024

Low Frequency of Cancer-Predisposition Gene Mutations in Liver Transplant Candidates with Hepatocellular Carcinoma.

Horackova K et al.

Cancers, 2022

A Large Case-Control Study Performed in Spanish Population Suggests That RECQL5 Is the Only RECQ Helicase Involved in Breast Cancer Susceptibility.

Marchena-Perea EM et al.

Cancers, 2022

Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma.

Maciaszek JL et al.

Cold Spring Harbor Molecular Case Studies, 2019

31604778 (PubMed )
Supplement: supp_mcs.a004218_Supplemental_Tables.xlsx › Table_S2
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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."