Varaico: Literature-Extracted Genetic Variants

Gene:MLST8
Variant:p.C133R
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MLST8

NM_022372.6:p.C133R

Associated Papers

HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship.

Bode H et al.

Human Molecular Genetics, 2016

The pyridoxal 5'-phosphate (PLP)-dependent enzyme serine palmitoyltransferase (SPT): effects of the small subunits and insights from bacterial mimics of human hLCB2a HSAN1 mutations.

Beattie AE et al.

Biomed Research International, 2013

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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."