Varaico: Literature-Extracted Genetic Variants

Gene:NMNAT1
Variant:p.E249Q
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NMNAT1

NM_022787.4:p.E249Q

Associated Papers

A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression.

Falk MJ et al.

Rna Biology, 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."