Varaico: Literature-Extracted Genetic Variants

Gene:CLN6
Variant:p.Y295C
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CLN6

NM_017882.3:p.Y295C

Associated Papers

A Novel CLN6 Variant Associated With Juvenile Neuronal Ceroid Lipofuscinosis in Patients With Absence of Visual Loss as a Presenting Feature.

Nicolaou P et al.

Frontiers in Genetics, 2021

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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."