Varaico: Literature-Extracted Genetic Variants

Gene:RECQL4
Variant:p.S836_L840delFs
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RECQL4

NM_004260.4:p.S836_L840delFs

Associated Papers

De novo myelodysplastic syndrome in a Rothmund-Thomson Syndrome patient with novel pathogenic RECQL4 variants.

Jiang C et al.

Blood Science (baltimore, Md.), 2023

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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."