Varaico: Literature-Extracted Genetic Variants

Gene:HAAO
Variant:p.R43K
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HAAO

NM_012205.3:p.R43K

Associated Papers

Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease.

Slavotinek AM et al.

Hgg Advances, 2024

38521975 (PubMed )
Supplement: mmc2.xlsx › Supplementary_table_2

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

Single Amino Acid Substitution in Homogentisate Dioxygenase Affects Melanin Production in Bacillus thuringiensis.

Yang W et al.

Frontiers in Microbiology, 2018

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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."