Varaico: Literature-Extracted Genetic Variants

Gene:CLN3
Variant:p.L213L
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CLN3

NM_001042432.2:p.L213L

Associated Papers

A mixed breed dog with neuronal ceroid lipofuscinosis is homozygous for a CLN5 nonsense mutation previously identified in Border Collies and Australian Cattle Dogs.

Villani NA 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."