Varaico: Literature-Extracted Genetic Variants

Gene:CLN8
Variant:p.L207R
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CLN8

NM_018941.4:p.L207R

Associated Papers

The Neuronal Ceroid Lipofuscinoses-Linked Loss of Function CLN5 and CLN8 Variants Disrupt Normal Lysosomal Function.

Parvin S et al.

Neuromolecular Medicine, 2019

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

Sahin Y et al.

Acta Neurologica Belgica, 2017

Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan.

Katata Y et al.

Brain & Development, 2016

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.

Di Fruscio G et al.

Autophagy, 2015

26075876 (PubMed )
Supplement: kaup-11-06-1043077-s001.zip › 1043077_supplemental_files › TABLE_S6.xlsx › results
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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."