Varaico: Literature-Extracted Genetic Variants

Gene:CYB5R3
Variant:p.L148P
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CYB5R3

NM_000398.7:p.L148P

Associated Papers

Novel mutation (R192C) in CYB5R3 gene causing NADH-cytochrome b5 reductase deficiency in eight Indian patients associated with autosomal recessive congenital methemoglobinemia type-I.

Kedar PS et al.

Hematology (amsterdam, Netherlands), 2018

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

Percy MJ et al.

British Journal of Haematology, 2008

Cytochrome b5 reductase: the roles of the recessive congenital methemoglobinemia mutants P144L, L148P, and R159*.

Davis CA et al.

Archives of Biochemistry and Biophysics, 2004

Familial idiopathic methemoglobinemia revisited: original cases reveal 2 novel mutations in NADH-cytochrome b5 reductase.

Percy MJ et al.

Blood, 2002

Identification and characterization of the novel FAD-binding lobe G75S mutation in cytochrome b(5) reductase: an aid to determine recessive congenital methemoglobinemia status in an infant.

Percy MJ et al.

Blood Cells, Molecules & Diseases, 0

Recessive hereditary methemoglobinemia: two novel mutations in the NADH-cytochrome b5 reductase gene.

Fermo E et al.

Blood Cells, Molecules & Diseases, 0

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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."