Varaico: Literature-Extracted Genetic Variants

Gene:CCT5
Variant:p.L224V
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CCT5

NM_012073.5:p.L224V

Associated Papers

Histopathology of Skeletal Muscle in a Distal Motor Neuropathy Associated with a Mutant CCT5 Subunit: Clues for Future Developments to Improve Differential Diagnosis and Personalized Therapy.

Scalia F et al.

Biology, 2023

Structural and Dynamic Disturbances Revealed by Molecular Dynamics Simulations Predict the Impact on Function of CCT5 Chaperonin Mutations Associated with Rare Severe Distal Neuropathies.

Scalia F et al.

International Journal of Molecular Sciences, 2023

Muscle Histopathological Abnormalities in a Patient With a CCT5 Mutation Predicted to Affect the Apical Domain of the Chaperonin Subunit.

Scalia F et al.

Frontiers in Molecular Biosciences, 2022

A Novel CCT5 Missense Variant Associated with Early Onset Motor Neuropathy.

Antona V et al.

International Journal of Molecular Sciences, 2020

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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."