Varaico: Literature-Extracted Genetic Variants

Gene:CYB5R3
Variant:p.G144V
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CYB5R3

NM_000398.7:p.G144V

Associated Papers

Unmasking Congenital Methemoglobinemia: A Novel CYB5R Mutation Discovered in an Adult with Symptomatic Polycythemia

Nayak AR et al.

Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2024

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

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