Varaico: Literature-Extracted Genetic Variants

Gene:RECQL
Variant:p.T134I
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RECQL

NM_002907.4:p.T134I

Associated Papers

Germline variants observed in pediatric cancer patients related to hereditary breast and ovarian cancer in adults.

Daugs K et al.

International Journal of Cancer, 2025

40857049 (PubMed )
Supplement: IJC-157-2447-s001.xlsx › Suppl.Tab5_187VUS_n372

A method to comprehensively identify germline SNVs, INDELs and CNVs from whole exome sequencing data of BRCA1/2 negative breast cancer patients.

Bianchi A et al.

Nar Genomics and Bioinformatics, 2024

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

36230663 (PubMed )
Supplement: cancers-14-04738-s001.zip › Table_S2_Cancers.pdf

Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer.

Felicio PS et al.

Human Mutation, 2021

33326660 (PubMed )
Supplement: HUMU-42-290-s006.xlsx › Table_S4_-_VUS_identified_
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