Varaico: Literature-Extracted Genetic Variants

Gene:CLN6
Variant:p.G259V
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CLN6

NM_017882.3:p.G259V

Associated Papers

Neuronal Ceroid Lipofuscinoses: Connecting Calcium Signalling through Calmodulin.

Mathavarajah S et al.

Cells, 2018

A first CLN6 variant case of late infantile neuronal ceroid lipofuscinosis caused by a homozygous mutation in a boy from China: a case report.

Sun G et al.

Bmc Medical Genetics, 2018

Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations.

Canafoglia L et al.

Neurology, 2015

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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."