Varaico: Literature-Extracted Genetic Variants

Gene:CLN5
Variant:p.G121R
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CLN5

NM_006493.4:p.G121R

Associated Papers

A systematic review of hereditary neurological disorders diagnosed by whole exome sequencing in Pakistani population: updates from 2014 to November 2024.

Ahmad R et al.

Neurogenetics, 2025

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

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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."