Varaico: Literature-Extracted Genetic Variants

Gene:NOVA2
Variant:p.D7_S8Fs
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NOVA2

NM_002516.4:p.D7_S8Fs

Associated Papers

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA.

van Berge L et al.

The Biochemical Journal, 2012

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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."