Varaico: Literature-Extracted Genetic Variants

Gene:CLN6
Variant:p.W181Splc
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CLN6

NM_017882.3:p.W181Splc

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

Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.

Mole SE et al.

Human Mutation, 1999

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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."