Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.I2068T
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SACS

NM_014363.6:p.I2068T

Associated Papers

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.

Anheim M et al.

Neurogenetics, 2010

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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."