Varaico: Literature-Extracted Genetic Variants

Gene:CLN6
Variant:p.S116R
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CLN6

NM_017882.3:p.S116R

Associated Papers

Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients.

Chin JJ et al.

Molecular Genetics and Metabolism, 2019

First Japanese variant of late infantile neuronal ceroid lipofuscinosis caused by novel CLN6 mutations.

Sato R et al.

Brain & Development, 2016

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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."