Varaico: Literature-Extracted Genetic Variants

Gene:CLN6
Variant:p.P297fs
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CLN6

NM_017882.3:p.P297fs

Associated Papers

Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients.

Chin JJ et al.

Molecular Genetics and Metabolism, 2019

Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations.

Mancini C et al.

Journal of Neurology, 2015

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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."