Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.K317N
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SDS

NM_006843.3:p.K317N

Associated Papers

Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.

McCorvie TJ et al.

Human Molecular Genetics, 2016

27005423 (PubMed )
Supplement: supp_ddw091_SupplementaryInformation.pdf

A novel tau mutation, p.K317N, causes globular glial tauopathy.

Tacik P et al.

Acta Neuropathologica, 2015

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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."