Varaico: Literature-Extracted Genetic Variants

Gene:CYB5R3
Variant:p.P269L
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CYB5R3

NM_000398.7:p.P269L

Associated Papers

Hereditary Congenital Methemoglobinemia Diagnosed at the Age of 79 Years: A Case Report.

Nakata M et al.

Medicina (kaunas, Lithuania), 2023

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

Gupta V et al.

Human Mutation, 2020

[Population frequency and age of mutation G5741→A in gene NBAS which is a cause of SOPH syndrome in Sakha (Yakutia) Republic].

Maksimova NR et al.

Genetika, 2016

[Population frequency and age of c.806C > T mutation in CYB5R3 gene as cause of recessive congenital methemoglobinemia in Yakutia].

Galeeva NM et al.

Genetika, 2013

[Novel large deletion c.22-1320_633+1224del in the CYB5R3 gene from patients with hereditary methemoglobinemia].

Galeeva NM et al.

Genetika, 2012

[Hereditary diseases among Yakuts].

Puzyrev VP et al.

Genetika, 2008

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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."