Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.P12R
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SDS

NM_006843.3:p.P12R

Associated Papers

A novel mutation m.8561C>G in MT-ATP6/8 causing a mitochondrial syndrome with ataxia, peripheral neuropathy, diabetes mellitus, and hypergonadotropic hypogonadism.

Kytövuori L et al.

Journal of Neurology, 2016

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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."