Varaico: Literature-Extracted Genetic Variants

Gene:NMNAT2
Variant:p.Q135insFs
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NMNAT2

NM_015039.4:p.Q135insFs

Associated Papers

Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence.

Lukacs M et al.

Experimental Neurology, 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."