Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.H78R
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HBB

NM_000518.5:p.H78R

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-Full_dataset

Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene.

Cybulski C et al.

Journal of Medical Genetics, 2002

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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."