Varaico: Literature-Extracted Genetic Variants

Gene:NMNAT1
Variant:p.K6E
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NMNAT1

NM_022787.4:p.K6E

Associated Papers

Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1.

Coppieters F et al.

Human Mutation, 2015

26316326 (PubMed )
Supplement: HUMU-36-1188-s001.pdf
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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."