Varaico: Literature-Extracted Genetic Variants

Gene:PPT1
Variant:p.G118D
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PPT1

NM_000310.4:p.G118D

Associated Papers

Myoclonus-Ataxia Syndromes: A Diagnostic Approach.

Rossi M et al.

Movement Disorders Clinical Practice, 2021

33426154 (PubMed )
Supplement: supplement_1.docx

Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.

Mole SE et al.

Neurogenetics, 2005

Lysosomal ceroid depletion by drugs: therapeutic implications for a hereditary neurodegenerative disease of childhood.

Zhang Z et al.

Nature Medicine, 2001

Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis.

Waliany S et al.

Human Mutation, 2000

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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."