Varaico: Literature-Extracted Genetic Variants

Gene:KYNU
Variant:p.S345R
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KYNU

NM_003937.3:p.S345R

Associated Papers

Comprehensive genetic profiling and molecularly guided treatment for patients with primary CNS tumors.

Kuehn JC et al.

Npj Precision Oncology, 2024

39143272 (PubMed )
Supplement: 41698_2024_674_MOESM2_ESM.xlsx › Supplementary_Data_3

Nicotinamide Adenine Dinucleotide Deficiency and Its Impact on Mammalian Development.

Dunwoodie SL et al.

Antioxidants & Redox Signaling, 2023

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.

Elliott AM et al.

Hgg Advances, 2022

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."