Varaico: Literature-Extracted Genetic Variants

Gene:RECQL4
Variant:p.K1048_D1049del2
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RECQL4

NM_004260.4:p.K1048_D1049del2

Associated Papers

Building a hereditary cancer program in Colombia: analysis of germline pathogenic and likely pathogenic variants spectrum in a high-risk cohort.

Sanabria-Salas MC et al.

European Journal of Human Genetics : Ejhg, 2025

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

Severe Phenotype With RECQL4 Syndrome: A Report of Two Cases.

Kanai Y et al.

American Journal of Medical Genetics. Part A, 2025

Germline sequence variation in cancer genes in Rwandan breast and prostate cancer cases.

Manirakiza AV et al.

Npj Genomic Medicine, 2024

Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.

Girard E et al.

International Journal of Cancer, 2019

30303537 (PubMed )
Supplement: IJC-144-1962-s006.pdf

Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.

Colombo EA et al.

International Journal of Molecular Sciences, 2018

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