Varaico: Literature-Extracted Genetic Variants

Gene:NMNAT1
Variant:p.E246V
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NMNAT1

NM_022787.4:p.E246V

Associated Papers

Clinical features and genetic spectrum of NMNAT1-associated retinal degeneration.

Yi Z et al.

Eye (london, England), 2022

Molecular genetics of Leber congenital amaurosis in Chinese: New data from 66 probands and mutation overview of 159 probands.

Xu Y et al.

Experimental Eye Research, 2016

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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."