Varaico: Literature-Extracted Genetic Variants

Gene:CYCS
Variant:p.R92G
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CYCS

NM_018947.6:p.R92G

Associated Papers

Autosomal dominant thrombocytopenia associated with the CYCS p.Arg92Gly variant: clinical characterization of an additional family and observation of antiplatelet tolerance.

Muhammad E et al.

Platelets, 2026

CYCS-related thrombocytopenia in three Japanese families with a novel variant in one family.

Yamada N et al.

International Journal of Hematology, 2025

A computational study of the fold and stability of cytochrome c with implications for disease.

Yousaf MA et al.

International Journal of Biological Macromolecules, 2025

A novel thrombocytopenia-4-causing CYCS gene variant decreases caspase activity: Three-generation study.

Štika J et al.

British Journal of Haematology, 2024

Thrombocytopenia 4 (THC4): Six novel families with mutations of the cytochrome c gene.

Marzollo A et al.

British Journal of Haematology, 2024

Syndromes predisposing to leukemia are a major cause of inherited cytopenias in children.

Gilad O et al.

Haematologica, 2022

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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."