Varaico: Literature-Extracted Genetic Variants

Gene:CLN6
Variant:p.L162_I163Splc
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CLN6

NM_017882.3:p.L162_I163Splc

Associated Papers

Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.

Berkovic SF et al.

Brain : a Journal of Neurology, 2019

Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis.

Sharp JD et al.

Human Mutation, 2003

Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis.

Teixeira CA et al.

Human Mutation, 2003

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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."