Varaico: Literature-Extracted Genetic Variants

Gene:CYB5R3
Variant:p.K111_V112Splc
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CYB5R3

NM_000398.7:p.K111_V112Splc

Associated Papers

Neurological and Neuroimaging Features of CYB5R3-Related Recessive Hereditary Methemoglobinemia Type II.

Nicita F et al.

Brain Sciences, 2022

35203946 (PubMed )
Supplement: brainsci-12-00182-s001.zip › Table_S1.pdf

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

Molecular basis of recessive congenital methemoglobinemia, types I and II: Exon skipping and three novel missense mutations in the NADH-cytochrome b5 reductase (diaphorase 1) gene.

Kugler W et al.

Human Mutation, 2001

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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."