Varaico: Literature-Extracted Genetic Variants

Gene:KYNU
Variant:p.E206K
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KYNU

NM_003937.3:p.E206K

Associated Papers

Molecular characterization of recessively inherited ataxic and neuropathic disorders in consanguineous Pakistani families.

Aslam F et al.

Scientific Reports, 2026

41606223 (PubMed )
Supplement: 41598_2026_37808_MOESM5_ESM.xlsx › Sheet1

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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