Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.R248delFs
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ATM

NM_000051.4:p.R248delFs

Associated Papers

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."