Varaico: Literature-Extracted Genetic Variants

Gene:SLFN14
Variant:p.K219E
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SLFN14

NM_001129820.2:p.K219E

Associated Papers

CryoEM structure of the SLFN14 endoribonuclease reveals insight into RNA binding and cleavage.

Van Riper J et al.

Nature Communications, 2025

Novel mutation SLFN14 T853fs associated with inherited macrothrombocytopenia.

Xie H et al.

Molecular Therapy. Nucleic Acids, 2025

Severe Thrombocytopenia Is Associated with a Genetic Variant in the Helicase Domain of SLFN14 Gene: A Case Report.

Yang K et al.

Ejhaem, 2025

Novel SLFN14 mutation associated with macrothrombocytopenia in a patient with severe haemorrhagic syndrome.

Polokhov D et al.

Orphanet Journal of Rare Diseases, 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."