Varaico: Literature-Extracted Genetic Variants

Gene:PTHLH
Variant:p.K129K
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PTHLH

NM_198965.2:p.K129K

Associated Papers

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."