Varaico: Literature-Extracted Genetic Variants

Gene:CLN6
Variant:p.R62H
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CLN6

NM_017882.3:p.R62H

Associated Papers

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

A missense mutation (c.184C>T) in ovine CLN6 causes neuronal ceroid lipofuscinosis in Merino sheep whereas affected South Hampshire sheep have reduced levels of CLN6 mRNA.

Tammen I et al.

Biochimica Et Biophysica Acta, 2006

Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis.

Sharp JD et al.

Human Mutation, 2003

Neuronal Ceroid Lipofuscinoses in Children.

Kamate M et al.

Annals of Indian Academy of Neurology, 0

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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."