Varaico: Literature-Extracted Genetic Variants

Gene:CYB5R3
Variant:p.G76S
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CYB5R3

NM_000398.7:p.G76S

Associated Papers

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

Nicita F et al.

Brain Sciences, 2022

35203946 (PubMed )
Supplement: brainsci-12-00182-s001.zip › Table_S1.pdf

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

Gupta V et al.

Human Mutation, 2020

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

Cooper MS et al.

Pediatric Blood & Cancer, 2016

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

Percy MJ et al.

Journal of Pediatric Hematology/oncology, 2012

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

Percy MJ et al.

British Journal of Haematology, 2008

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."