Varaico: Literature-Extracted Genetic Variants

Gene:RECQL4
Variant:p.A759insFs
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RECQL4

NM_004260.4:p.A759insFs

Associated Papers

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."