Varaico: Literature-Extracted Genetic Variants

Gene:CLN6
Variant:p.Y221*
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CLN6

NM_017882.3:p.Y221*

Associated Papers

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6.

Cannelli N et al.

Biochemical and Biophysical Research Communications, 2009

Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin.

Siintola E et al.

Clinical Genetics, 2005

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."