Varaico: Literature-Extracted Genetic Variants

Gene:CYB5R3
Variant:p.R58P
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CYB5R3

NM_000398.7:p.R58P

Associated Papers

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

Neurological and Neuroimaging Features of CYB5R3-Related Recessive Hereditary Methemoglobinemia Type II.

Nicita F et al.

Brain Sciences, 2022

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

Gupta V et al.

Human Mutation, 2020

Cellular and Molecular Mechanisms of Recessive Hereditary Methaemoglobinaemia Type II.

Siendones E et al.

Journal of Clinical Medicine, 2018

Congenital Methemoglobinemia Type II-Clinical Improvement with Short-Term Methylene Blue Treatment.

Cooper MS et al.

Pediatric Blood & Cancer, 2016

Primaquine-induced severe methemoglobinemia developed during treatment of Plasmodium vivax malarial infection in an Indian family associated with a novel mutation (p.Agr57Trp) in the CYB5R3 gene.

Kedar P et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014

Methemoglobin reductase deficiency: novel mutation is associated with a disease phenotype of intermediate severity.

Percy MJ et al.

Journal of Pediatric Hematology/oncology, 2012

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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."