Varaico: Literature-Extracted Genetic Variants

Gene:CLN8
Variant:p.A30fs
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CLN8

NM_018941.4:p.A30fs

Associated Papers

Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.

Reinhardt K et al.

Clinical Genetics, 2010

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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."