Varaico: Literature-Extracted Genetic Variants

Gene:CYB5R3
Variant:p.M177T
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CYB5R3

NM_000398.7:p.M177T

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

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

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

Gupta V et al.

Human Mutation, 2020

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

Warang PP et al.

Clinical Genetics, 2015

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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."