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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CLN3

Variant:p.L194L

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CLN3

NM_001042432.2:p.L194L

hg38:chr16:28486442 C>A

Associated Papers

Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X).

Sarpong A et al.

Clinical Genetics, 2009

19489875 (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."