Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.K133N
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HBB

NM_000518.5:p.K133N

Associated Papers

Atypical Interference in Hb A1c Measurements Might Be Due to Mosaic Expression of Hemoglobin Variants.

Strålfors A et al.

Clinical Chemistry, 2024

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-HBB

Advances of multiplex ligation-dependent probe amplification technology in molecular diagnostics.

Fu X et al.

Biotechniques, 2022

Hemoglobin Yamagata [β132(H10)Lys→Asn; (HBB: c.399A>T)]: a mosaic to be put together.

Iacomelli I et al.

Clinical Chemistry and Laboratory Medicine, 2021

Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.

Cirulli ET et al.

Nature Communications, 2020

31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf

Hemoglobin Yamagata: hemoglobin variant detected by HbA1c test.

Jung CL et al.

The Korean Journal of Laboratory Medicine, 2009

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