Varaico: Literature-Extracted Genetic Variants

Gene:CLN6
Variant:p.H311_*312insFs
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CLN6

NM_017882.3:p.H311_*312insFs

Associated Papers

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

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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."