Varaico: Literature-Extracted Genetic Variants

Gene:CLN8
Variant:p.K284R
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CLN8

NM_018941.4:p.K284R

Associated Papers

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

Lonka L et al.

Human Molecular Genetics, 2000

Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6.

Heine C et al.

Molecular Membrane Biology, 0

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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."