Varaico: Literature-Extracted Genetic Variants

Gene:RECQL4
Variant:p.F850fs
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RECQL4

NM_004260.4:p.F850fs

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

Multigene Panel Sequencing Identifies a Novel Germline Mutation Profile in Male Breast Cancer Patients.

Al Saati A et al.

International Journal of Molecular Sciences, 2023

Germline pathogenic variants in patients with early-onset neuroendocrine neoplasms.

Riechelmann RP et al.

Endocrine-related Cancer, 2023

Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms.

da Rocha LA et al.

Clinical Genetics, 2021

Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.

Suter AA et al.

Molecular Genetics & Genomic Medicine, 2016

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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."