Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.I294V
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SORD

NM_003104.6:p.I294V

Associated Papers

Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature.

Barbato A et al.

Endocrine Connections, 2024

Exploring Yeast as a Study Model of Pantothenate Kinase-Associated Neurodegeneration and for the Identification of Therapeutic Compounds.

Ceccatelli Berti C 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."