Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.K9N
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HBB

NM_000518.5:p.K9N

Associated Papers

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

The spectrum of β-thalassemia mutations in Gaza Strip, Palestine.

Sirdah MM et al.

Blood Cells, Molecules & Diseases, 2013

Molecular basis of β-thalassemia in the western province of Saudi Arabia: identification of rare β-thalassemia mutations.

Abuzenadah AM et al.

Hemoglobin, 2011

Beta-thalassemia.

Galanello R et al.

Orphanet Journal of Rare Diseases, 2010

Hemoglobinopathies in North Africa: a review.

Haj Khelil A et al.

Hemoglobin, 2010

A multi-center study in order to further define the molecular basis of beta-thalassemia in Thailand, Pakistan, Sri Lanka, Mauritius, Syria, and India, and to develop a simple molecular diagnostic strategy by amplification refractory mutation system-polymerase chain reaction.

Old JM et al.

Hemoglobin, 2001

Challenges in diagnosis of thalassemia syndromes.

Kaur G et al.

Medical Journal, Armed Forces India, 0

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