Varaico: Literature-Extracted Genetic Variants

Gene:RECQL4
Variant:p.K508R
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RECQL4

NM_004260.4:p.K508R

Associated Papers

RAPADILINO RECQL4 mutant protein lacks helicase and ATPase activity.

Croteau DL et al.

Biochimica Et Biophysica Acta, 2012

Dual DNA unwinding activities of the Rothmund-Thomson syndrome protein, RECQ4.

Xu X et al.

The Embo Journal, 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."