Varaico: Literature-Extracted Genetic Variants

Gene:CYB5R3
Variant:p.R92W
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CYB5R3

NM_000398.7:p.R92W

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

Beyond a routine blood gas, an easily picked but missed diagnosis of chronic Encephalopathy.

AlFaris HS et al.

International Journal of Pediatrics & Adolescent Medicine, 2021

Recessive congenital methemoglobinemia type II: Hypoplastic basal ganglia in two siblings with a novel mutation of the cytochrome b5 reductase gene.

Nicolas-Jilwan M

The Neuroradiology Journal, 2019

Clinical spectrum and molecular basis of recessive congenital methemoglobinemia in India.

Warang PP et al.

Clinical Genetics, 2015

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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."