Varaico: Literature-Extracted Genetic Variants

Gene:CLN8
Variant:p.V90insFs
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CLN8

NM_018941.4:p.V90insFs

Associated Papers

Identifying protein partners of CLN8, an ER-resident protein involved in neuronal ceroid lipofuscinosis.

Passantino R et al.

Biochimica Et Biophysica Acta, 2013

Galactolipid deficiency in the early pathogenesis of neuronal ceroid lipofuscinosis model Cln8mnd : implications to delayed myelination and oligodendrocyte maturation.

Kuronen M et al.

Neuropathology and Applied Neurobiology, 2012

Molecular genetics of the NCLs -- status and perspectives.

Siintola E et al.

Biochimica Et Biophysica Acta, 2006

The intracellular location and function of proteins of neuronal ceroid lipofuscinoses.

Ezaki J et al.

Brain Pathology (zurich, Switzerland), 2004

Clinical features and molecular genetic basis of the neuronal ceroid lipofuscinoses.

Gardiner RM

Advances in Neurology, 2002

The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum.

Lonka L et al.

Human Molecular Genetics, 2000

The molecular genetic basis of the neuronal ceroid lipofuscinoses.

Gardiner RM

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2000

Northern epilepsy, a new member of the NCL family.

Ranta S et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2000

The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8.

Ranta S et al.

Nature Genetics, 1999

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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."