Varaico: Literature-Extracted Genetic Variants

Gene:CYB5R3
Variant:p.R192C
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CYB5R3

NM_000398.7:p.R192C

Associated Papers

Case report: neonatal cyanosis secondary to congenital methemoglobinemia, a cause to consider in newborn cyanosis.

Carmona-Nunez A et al.

Translational Pediatrics, 2025

Identification of High-Risk Single Nucleotide Polymorphisms in the Human CYB5R3 Gene Responsible for Recessive Congenital Methemoglobinemia: A Computational Approach.

Bouatrous E et al.

Molecular Syndromology, 2023

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

Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia.

Gupta V et al.

Human Mutation, 2020

Novel mutation (R192C) in CYB5R3 gene causing NADH-cytochrome b5 reductase deficiency in eight Indian patients associated with autosomal recessive congenital methemoglobinemia type-I.

Kedar PS et al.

Hematology (amsterdam, Netherlands), 2018

Successful management of Methemoglobinemia and G6PD deficiency in a patient posted for surgical excision of branchial cyst.

Arun VJ et al.

Asian Journal of Transfusion Science, 0

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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."