Varaico: Literature-Extracted Genetic Variants

Gene:CYB5R3
Variant:p.T295del1
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CYB5R3

NM_000398.7:p.T295del1

Associated Papers

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

Percy MJ et al.

British Journal of Haematology, 2008

Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum.

Ewenczyk C et al.

Brain : a Journal of Neurology, 2008

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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."