Varaico: Literature-Extracted Genetic Variants

Gene:CLN8
Variant:p.K61del1
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CLN8

NM_018941.4:p.K61del1

Associated Papers

The neuronal ceroid lipofuscinosis-related protein CLN8 regulates endo-lysosomal dynamics and dendritic morphology.

Pesaola F et al.

Biology of the Cell, 2021

Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy.

Sahin Y et al.

Acta Neurologica Belgica, 2017

Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population.

Inoue E et al.

Plos One, 2015

Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.

Reinhardt K et al.

Clinical Genetics, 2010

A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.

Vantaggiato C et al.

Human Mutation, 2009

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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."