Varaico: Literature-Extracted Genetic Variants

Gene:RECQL4
Variant:p.A919Splc
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RECQL4

NM_004260.4:p.A919Splc

Associated Papers

Germline Sequencing of Familial and Sporadic Early-Onset Colorectal Cancer: A Novel Pattern of Genes.

Vande Perre P et al.

International Journal of Molecular Sciences, 2025

Germline DNA damage response gene mutations as predictive biomarkers of immune checkpoint inhibitor efficacy.

Dennis MJ et al.

Frontiers in Immunology, 2024

38348036 (PubMed )
Supplement: Table_2.xlsx › Supplement_Table_2

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2

Prevalence of Germline Sequence Variations Among Patients With Pancreatic Cancer in China.

Yin L et al.

Jama Network Open, 2022

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

Maciaszek JL et al.

Cold Spring Harbor Molecular Case Studies, 2019

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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."