Varaico: Literature-Extracted Genetic Variants

Gene:PSAP
Variant:p.A14A
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PSAP

NM_002778.4:p.A14A

Associated Papers

Acid ceramidase deficiency: Farber disease and SMA-PME.

Yu FPS et al.

Orphanet Journal of Rare Diseases, 2018

Phosphorylation of the MAPKKK regulator Ste50p in Saccharomyces cerevisiae: a casein kinase I phosphorylation site is required for proper mating function.

Wu C et al.

Eukaryotic Cell, 2003

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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."