Varaico: Literature-Extracted Genetic Variants

Gene:CLN6
Variant:p.L108M
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CLN6

NM_017882.3:p.L108M

Associated Papers

KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.

Metz KA et al.

Annals of Neurology, 2018

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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."