Varaico: Literature-Extracted Genetic Variants

Gene:RECQL4
Variant:p.S523delFs
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RECQL4

NM_004260.4:p.S523delFs

Associated Papers

Rothmund-Thomson syndrome.

Larizza L et al.

Orphanet Journal of Rare Diseases, 2010

20113479 (PubMed )
Supplement: 1750-1172-5-2-S1.PDF

The mutation spectrum in RECQL4 diseases.

Siitonen HA et al.

European Journal of Human Genetics : Ejhg, 2009

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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."