Varaico: Literature-Extracted Genetic Variants

Gene:CLN8
Variant:p.L226P
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CLN8

NM_018941.4:p.L226P

Associated Papers

CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis-Literature Review and Case Report.

Badura-Stronka M et al.

Genes, 2021

Congenital CLN8 disease of neuronal ceroid lipofuscinosis: a novel phenotype.

Pesaola F et al.

Revista De Neurologia, 2019

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

Sahin Y et al.

Acta Neurologica Belgica, 2017

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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."