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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NAXD

Variant:p.D112fs

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NAXD

NM_001242882.2:p.D112fs

hg38:chr13:110627440 GAC>N

Associated Papers

Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma.

Van Bergen NJ et al.

International Journal of Molecular Sciences, 2023

36834994 (PubMed )

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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."