Varaico: Literature-Extracted Genetic Variants

Gene:PPT1
Variant:p.R179Splc
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PPT1

NM_000310.4:p.R179Splc

Associated Papers

Lysosomal serine protease CLN2 regulates tumor necrosis factor-alpha-mediated apoptosis in a Bid-dependent manner.

Autefage H et al.

The Journal of Biological Chemistry, 2009

The genetic spectrum of human neuronal ceroid-lipofuscinoses.

Mole SE

Brain Pathology (zurich, Switzerland), 2004

An Australasian diagnostic service for the neuronal ceroid lipofuscinoses.

Muller VJ et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2001

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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."