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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CLN3

Variant:p.S208insFs

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CLN3

NM_001042432.2:p.S208insFs

hg38:chr16:28486401 G>GAA

Associated Papers

Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.

Pérez-Poyato MS et al.

Journal of Inherited Metabolic Disease, 2011

21499717 (PubMed )

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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."