Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.A248delFs
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SACS

NM_014363.6:p.A248delFs

Associated Papers

The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population.

Mahdieh N et al.

Human Genomics, 2024

Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency.

El Euch-Fayache G et al.

Brain : a Journal of Neurology, 2014

Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration.

Wolf NI et al.

Handbook of Clinical Neurology, 2013

Autosomal recessive cerebellar ataxias.

Palau F et al.

Orphanet Journal of Rare Diseases, 2006

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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."