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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CLN5

Variant:p.Y208_Y209delFs

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CLN5

NM_006493.4:p.Y208_Y209delFs

hg38:chr13:77000513 TTATTA>T

Associated Papers

Drug-refractory epilepsy due to a novel CLN5 mutation: A report of three patients from an Indian family.

Joy S et al.

Seizure, 2025

39667065 (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."