Varaico: Literature-Extracted Genetic Variants

Gene:CLN3
Variant:p.S186fs
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CLN3

NM_001042432.2:p.S186fs

Associated Papers

Long-Term Open-Label Study Evaluating Oral Miglustat Treatment in Patients With Neuronal Ceroid Lipofuscinosis Type 3.

Pietrafusa N et al.

Neurology, 2025

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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."