Varaico: Literature-Extracted Genetic Variants

Gene:NADSYN1
Variant:p.L215P
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NADSYN1

NM_018161.5:p.L215P

Associated Papers

A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.

Szot JO et al.

The Journal of Clinical Investigation, 2024

Clinical heterogeneity of NADSYN1-associated VCRL syndrome.

Aubert-Mucca M et al.

Clinical Genetics, 2023

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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."