Varaico: Literature-Extracted Genetic Variants

Gene:CLN3
Variant:p.A98_A99Splc
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CLN3

NM_001042432.2:p.A98_A99Splc

Associated Papers

Alterations in ROS activity and lysosomal pH account for distinct patterns of macroautophagy in LINCL and JNCL fibroblasts.

Vidal-Donet JM et al.

Plos One, 2013

Late infantile neuronal ceroid lipofuscinosis: a new mutation in Arabs.

Goldberg-Stern H et al.

Pediatric Neurology, 2009

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

Current state of clinical and morphological features in human NCL.

Goebel HH et al.

Brain Pathology (zurich, Switzerland), 2004

Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population.

Teixeira C et al.

Journal of Neurology, 2003

Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations.

Steinfeld R et al.

American Journal of Medical Genetics, 2002

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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."