Varaico: Literature-Extracted Genetic Variants

Gene:CYB5R3
Variant:p.L188del1
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CYB5R3

NM_000398.7:p.L188del1

Associated Papers

Hemoglobin Disorders Associated with Neurological Impairment: First Report of ATR-X Syndrome and Recessive Congenital Methemoglobinemia Type II in Tunisia.

Ouragini H et al.

International Journal of Molecular Sciences, 2025

Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia.

Gupta V et al.

Human Mutation, 2020

Cellular and Molecular Mechanisms of Recessive Hereditary Methaemoglobinaemia Type II.

Siendones E et al.

Journal of Clinical Medicine, 2018

Methemoglobin reductase deficiency: novel mutation is associated with a disease phenotype of intermediate severity.

Percy MJ et al.

Journal of Pediatric Hematology/oncology, 2012

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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."