Varaico: Literature-Extracted Genetic Variants

Gene:CLN8
Variant:p.N277_Q279Fs
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CLN8

NM_018941.4:p.N277_Q279Fs

Associated Papers

Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center.

Rus CM et al.

Orphanet Journal of Rare Diseases, 2022

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

Sharp JD 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."