Varaico: Literature-Extracted Genetic Variants

Gene:HAAO
Variant:p.H47Q
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HAAO

NM_012205.3:p.H47Q

Associated Papers

Nicotinamide Adenine Dinucleotide Deficiency and Its Impact on Mammalian Development.

Dunwoodie SL et al.

Antioxidants & Redox Signaling, 2023

New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder.

Szot JO et al.

Human Mutation, 2021

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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."