Varaico: Literature-Extracted Genetic Variants

Gene:PPT1
Variant:p.V228G
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PPT1

NM_000310.4:p.V228G

Associated Papers

Neuronal Ceroid Lipofuscinoses: Connecting Calcium Signalling through Calmodulin.

Mathavarajah S et al.

Cells, 2018

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

Kousi M et al.

Human Mutation, 2012

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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."