Varaico: Literature-Extracted Genetic Variants

Gene:RECQL4
Variant:p.L1007_C1008delFs
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RECQL4

NM_004260.4:p.L1007_C1008delFs

Associated Papers

Molecular Mechanisms of the RECQ4 Pathogenic Mutations.

Xu X et al.

Frontiers in Molecular Biosciences, 2021

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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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."