Varaico: Literature-Extracted Genetic Variants

Gene:CYB5R3
Variant:p.G72delFs
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CYB5R3

NM_000398.7:p.G72delFs

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

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

A novel mutation in type II methemoglobinemia.

Hudspeth MP et al.

Journal of Child Neurology, 2010

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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."