Varaico: Literature-Extracted Genetic Variants

Gene:NUP62
Variant:p.L384P
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NUP62

NM_016553.5:p.L384P

Associated Papers

Autophagic vacuolar myopathy is a common feature of CLN3 disease.

Radke J et al.

Annals of Clinical and Translational Neurology, 2018

30480032 (PubMed )
Supplement: ACN3-5-1385-s001.doc
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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."