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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CLN3

Variant:p.F169_L170insA

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CLN3

NM_001042432.2:p.F169_L170insA

hg38:chr16:28486606 A>ANNN

Associated Papers

Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.

Santorelli FM et al.

Orphanet Journal of Rare Diseases, 2013

23374165 (PubMed )

Supplement: 1750-1172-8-19-S1.xls › Foglio1

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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."