Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.N81K
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HBB

NM_000518.5:p.N81K

Associated Papers

A novel compound heterozygous of β-thalassemia with HbG-Coushatta: case report of Iran.

Soozangar N et al.

Human Genome Variation, 2023

A Rare Case of Abnormal Hemoglobin Variant Hb Mizuho: [HBB: c.206T > C β 68(E12) Leu-Pro]: A First Report in the Chinese Population.

Chen YP et al.

Hemoglobin, 2023

Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.

Tamana S et al.

Elife, 2022

36453528 (PubMed )
Supplement: elife-79713-supp2.xlsx › Input-Full_dataset

Hb Mizuho (HBB: c.206T>C): Pitfalls of Screening Tests in an Unstable Hemoglobin Variant Diagnosed after Targeted Next-Generation Sequencing.

Yadav DD et al.

Hemoglobin, 2021

The rare hemoglobin variant Hb Mizuho: report of a Swiss family and literature review.

Njue L et al.

Annals of Hematology, 2021

Genotype-phenotype association analysis identifies the role of α globin genes in modulating disease severity of β thalassaemia intermedia in Sri Lanka.

Perera S et al.

Scientific Reports, 2019

Hb Moncloa: A new variant of haemoglobin that interferes in the quantification of Hb A1c.

Torrejón MJ et al.

Clinical Biochemistry, 2017

Rare hemoglobin variants: Hb G-Szuhu (HBB: c.243C>G), Hb G-Coushatta (HBB: c.68A>C) and Hb Mizuho (HBB: c.206T>C) in Sri Lankan families.

Perera PS et al.

Hemoglobin, 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."