Varaico: Literature-Extracted Genetic Variants

Gene:RECQL
Variant:p.Q460*
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RECQL

NM_002907.4:p.Q460*

Associated Papers

Pathogenic Germline Mutations in DNA Repair Genes in Combination With Cancer Treatment Exposures and Risk of Subsequent Neoplasms Among Long-Term Survivors of Childhood Cancer.

Qin N et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2020

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_6

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."