Varaico: Literature-Extracted Genetic Variants

Gene:CYCS
Variant:p.H27Y
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CYCS

NM_018947.6:p.H27Y

Associated Papers

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

Mutations of the Electron Transport Chain Affect Lifespan and ROS Levels in C. elegans.

Ősz F et al.

Antioxidants (basel, Switzerland), 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

The Y49H cytochrome c variant enhances megakaryocytic maturation of K-562 cells.

Shafaei Pishabad Z et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2024

Altered conformational dynamics contribute to species-specific effects of cytochrome c mutations on caspase activation.

Chin TC et al.

Journal of Biological Inorganic Chemistry : Jbic : a Publication of the Society of Biological Inorganic Chemistry, 2024

A Novel Heterozygous Pathogenic Variation in CYCS Gene Cause Autosomal Dominant Non-Syndromic Thrombocytopenia 4 in a Large Chinese Family.

Che F et al.

Frontiers in Genetics, 2021

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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."