Varaico: Literature-Extracted Genetic Variants

Gene:CSTB
Variant:p.V65I
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CSTB

NM_000100.4:p.V65I

Associated Papers

Delineating the Clinical and Brain Imaging Characteristics of the Neonatal Form of CSTB -Related Neurodevelopmental Disorders.

Abdel-Hamid MS et al.

Clinical Genetics, 2025

The Roles of Cystatin B in the Brain and Pathophysiological Mechanisms of Progressive Myoclonic Epilepsy Type 1.

Singh S et al.

Cells, 2024

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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."