Varaico: Literature-Extracted Genetic Variants

Gene:CLN6
Variant:p.Y142C
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CLN6

NM_017882.3:p.Y142C

Associated Papers

Genetic spectrum of neuronal ceroid lipofuscinosis & its genotype-phenotype correlation -A single centre experience of 56 cases.

Thuppanattumadam Ananthasubramanian S et al.

Journal of the Neurological Sciences, 2025

A novel homozygous CLN6 Tyr142Cys variant in a nonconsanguineous family with Kufs disease.

Chen B et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024

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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."