Varaico: Literature-Extracted Genetic Variants

Gene:CYB5R3
Variant:p.R50Q
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CYB5R3

NM_000398.7:p.R50Q

Associated Papers

Novel Compound Heterogeneous Mutations in CYB5R3 Gene Leading to Methemoglobinemia (Type I) in a Chinese Boy: Case Report and Relevant Comprehensive Analysis.

Yang Y et al.

Acta Haematologica, 2025

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

Gupta V et al.

Human Mutation, 2020

Recessive congenital methemoglobinemia in immediate generations.

Aslan D et al.

The Turkish Journal of Pediatrics, 2016

Clinical spectrum and molecular basis of recessive congenital methemoglobinemia in India.

Warang PP et al.

Clinical Genetics, 2015

Recessive congenital methaemoglobinaemia: cytochrome b(5) reductase deficiency.

Percy MJ et al.

British Journal of Haematology, 2008

Seven new mutations in the nicotinamide adenine dinucleotide reduced-cytochrome b(5) reductase gene leading to methemoglobinemia type I.

Dekker J et al.

Blood, 2001

Recessive hereditary methemoglobinemia: two novel mutations in the NADH-cytochrome b5 reductase gene.

Fermo E et al.

Blood Cells, Molecules & Diseases, 0

A rare cause of mental motor retardation: recessive congenital methemoglobinemia type II.

Yüksel D et al.

The Turkish Journal of Pediatrics, 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."