Varaico: Literature-Extracted Genetic Variants

Gene:CLN5
Variant:p.V182G
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CLN5

NM_006493.4:p.V182G

Associated Papers

A lysosomal enigma CLN5 and its significance in understanding neuronal ceroid lipofuscinosis.

Basak I et al.

Cellular and Molecular Life Sciences : Cmls, 2021

High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses.

Jilani A et al.

Jimd Reports, 2019

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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."