Varaico: Literature-Extracted Genetic Variants

Gene:CYB5R3
Variant:p.I194L
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CYB5R3

NM_000398.7:p.I194L

Associated Papers

PCR-based detection of hereditary mutations in SLC2A9, BTBD17, and NECAP1 among native Korean dog breeds.

Kang M et al.

Journal of Veterinary Science, 2025

40765230 (PubMed )
Supplement: jvs-26-e48-s001.xls › Supplementary_Table_1

Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture.

Meadows JRS et al.

Genome Biology, 2023

37582787 (PubMed )
Supplement: 13059_2023_3023_MOESM1_ESM.xlsx › Table_S16

Methemoglobinemia, Increased Deformability and Reduced Membrane Stability of Red Blood Cells in a Cat with a CYB5R3 Splice Defect.

Jenni S et al.

Cells, 2023

Characterization of a novel nicotinamide adenine dinucleotide-cytochrome b5 reductase mutation associated with canine hereditary methemoglobinemia.

Otsuka-Yamasaki Y et al.

The Journal of Veterinary Medical Science, 2021

Clinical, metabolic, and molecular genetic characterization of hereditary methemoglobinemia caused by cytochrome b5 reductase deficiency in 30 dogs.

Jaffey JA et al.

Scientific Reports, 2020

Genetic cause for congenital methemoglobinemia in an Australian Pomeranian dog.

Zhou S et al.

Journal of Veterinary Internal Medicine, 2019

Familial Congenital Methemoglobinemia in Pomeranian Dogs Caused by a Missense Variant in the NADH-Cytochrome B5 Reductase Gene.

Shino H et al.

Journal of Veterinary Internal Medicine, 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."