Varaico: Literature-Extracted Genetic Variants

Gene:CLN6
Variant:p.L305fs
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CLN6

NM_017882.3:p.L305fs

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

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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."