Varaico: Literature-Extracted Genetic Variants

Gene:CYB5A
Variant:p.T60S
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CYB5A

NM_148923.4:p.T60S

Associated Papers

Recessive congenital methaemoglobinaemia: functional characterization of the novel D239G mutation in the NADH-binding lobe of cytochrome b5 reductase.

Percy MJ et al.

British Journal of Haematology, 2005

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

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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."