Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.Q22_K23Splc
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CAT

NM_001752.4:p.Q22_K23Splc

Associated Papers

Detection of Paternal IVS-II-1 (G>A) (HBB: c.315+1G>A) Mutation in Cell-Free Fetal DNA Using COLD-PCR assay.

Mortazavipour MM et al.

Hemoglobin, 2020

Molecular characterization of β-thalassemia intermedia in the West Bank, Palestine.

Faraon R et al.

Bmc Hematology, 2019

Molecular Basis of β-Thalassemia in the Population of the Aegean Region of Turkey: Identification of A Novel Deletion Mutation.

Ozkinay F et al.

Hemoglobin, 2015

Decreased blood catalase activity is not related to specific beta-thalassemia mutations in Hungary.

Kósa Z et al.

International Journal of Laboratory Hematology, 2012

Molecular heterogeneity of beta-thalassemia alleles in Spain and its importance in the diagnosis and prevention of beta-thalassemia major and sickle cell disorders.

Pereira Mdel M et al.

Hemoglobin, 2009

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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."