Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.N103S
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HBB

NM_000518.5:p.N103S

Associated Papers

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

Hemoglobin Beth Israel [HBB:c.308A>G (p.Asn103Ser)]: an ultra-rare, low oxygen-affinity, non-methemoglobinemic hemoglobin diagnosed on targeted resequencing as cause of dominantly inherited benign cyanosis.

Singh N et al.

Annals of Hematology, 2022

Cytokine single nucleotide polymorphisms in patients' with gallstone: dose TGF-β gene variants affect gallstone formation?

Ebadi P et al.

Molecular Biology Reports, 2013

Prevalence of hemoglobin variants and hemoglobinopathies using cation-exchange high-performance liquid chromatography in central reference laboratory of India: A report of 65779 cases.

Warghade S et al.

Journal of Laboratory Physicians, 0

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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."