Varaico: Literature-Extracted Genetic Variants

Gene:CYB5R3
Variant:p.P145S
Back to variants list

CYB5R3

NM_000398.7:p.P145S

Associated Papers

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

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

Percy MJ et al.

British Journal of Haematology, 2008

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

Fermo E et al.

Blood Cells, Molecules & Diseases, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."