Varaico: Literature-Extracted Genetic Variants

Gene:CLN8
Variant:p.M1V
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CLN8

NM_018941.4:p.M1V

Associated Papers

Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview.

Guelbert G et al.

Frontiers in Neurology, 2022

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

The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina.

Kohan R et al.

Biochimica Et Biophysica Acta, 2015

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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."