Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.G80Splc
Back to variants list

CAT

NM_001752.4:p.G80Splc

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

Further acatalasemia mutations in human patients from Hungary with diabetes and microcytic anemia.

Nagy T et al.

Mutation Research, 2015

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

β+-Thalassemia trait due to a novel mutation in the β-globin gene promoter: -26 (A>C) [HBB c.-76A>C].

Waye JS et al.

Hemoglobin, 2011

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."