Varaico: Literature-Extracted Genetic Variants

Gene:CYB5R3
Variant:p.P65L
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CYB5R3

NM_000398.7:p.P65L

Associated Papers

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

Gupta V et al.

Human Mutation, 2020

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

Identification and characterization of the novel FAD-binding lobe G75S mutation in cytochrome b(5) reductase: an aid to determine recessive congenital methemoglobinemia status in an infant.

Percy MJ et al.

Blood Cells, Molecules & Diseases, 0

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

Fermo E et al.

Blood Cells, Molecules & Diseases, 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."