Associated Papers
Prenatal diagnosis of rare genetic disorders: fourteen years' experience of a tertiary genetic centre from India.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2025
40898337 (PubMed )
Supplement: 13023_2025_4003_MOESM4_ESM.xlsx › Hematological
Complete molecular spectrum of β-globin gene mutations via direct sequencing identifies seven novel variants in β-thalassemia major.
Sadoon TA et al.
Plos One, 2025
Wide spectrum of novel and rare hemoglobin variants in the multi-ethnic Indian population: A review.
Thaker P et al.
International Journal of Laboratory Hematology, 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
Hb Midnapore [β53(D4)Ala→Val; HBB: c.161C>T]: A Novel Hemoglobin Variant with a Structural Abnormality Associated with IVS-I-5 (G>C) (HBB: c.92+5G>C) Found in a Bengali Indian Family.
Panja A et al.
Hemoglobin, 2016
Distinctive mutation spectrum of the HBB gene in an urban eastern Indian population.
Sahoo SS et al.
Hemoglobin, 2014
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