Varaico: Literature-Extracted Genetic Variants

Gene:CLN5
Variant:p.A17_G18del2
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CLN5

NM_006493.4:p.A17_G18del2

Associated Papers

Proteomic and functional analyses in disease models reveal CLN5 protein involvement in mitochondrial dysfunction.

Doccini S et al.

Cell Death Discovery, 2020

32257390 (PubMed )
Supplement: 41420_2020_250_MOESM5_ESM.xlsx › Cell_Model
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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."