Varaico: Literature-Extracted Genetic Variants

Gene:PPP5C
Variant:p.M1I
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PPP5C

NM_006247.4:p.M1I

Associated Papers

Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities.

Wongkittichote P et al.

Molecular Genetics and Metabolism, 2023

Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis.

Das AK et al.

Human Molecular Genetics, 2001

Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.

Das AK et al.

The Journal of Clinical Investigation, 1998

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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."