Varaico: Literature-Extracted Genetic Variants

Gene:RECQL4
Variant:p.G1019Splc
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RECQL4

NM_004260.4:p.G1019Splc

Associated Papers

A recurrent pathogenic BRCA2 exon 5-11 duplication in the Christian Arab population in Israel.

Reznick Levi G et al.

Familial Cancer, 2022

Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.

Van Maldergem L et al.

Journal of Medical Genetics, 2006

Rothmund-Thomson syndrome and RECQL4 defect: splitting and lumping.

Larizza L et al.

Cancer Letters, 2006

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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."