Varaico: Literature-Extracted Genetic Variants

Gene:BCL11A
Variant:p.P19Splc
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BCL11A

NM_022893.4:p.P19Splc

Associated Papers

Genotype-phenotype association analysis identifies the role of α globin genes in modulating disease severity of β thalassaemia intermedia in Sri Lanka.

Perera S et al.

Scientific Reports, 2019

First Report on the Coinheritance of α-Thalassemia and a Rare β-Thalassemia Compound Heterozygosity for the IVS-I-I(G>A)/IVS-II-705(T>G) Mutations in a Syrian Family.

Murad H et al.

Hemoglobin, 2019

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

Faraon R et al.

Bmc Hematology, 2019

β-Thalassemia Haplotypes in Romania in the Context of Genetic Mixing in the Mediterranean Area.

Cherry L et al.

Hemoglobin, 2016

Spectrum of β-thalassemia mutations in the eastern province of Saudi Arabia.

Al-Sultan A et al.

Hemoglobin, 2011

Frequency of positive XmnIGgamma polymorphism and coinheritance of common alpha thalassemia mutations do not show statistically significant difference between thalassemia major and intermedia cases with homozygous IVSII-1 mutation.

Neishabury M et al.

Blood Cells, Molecules & Diseases, 0

Description of a rare β-globin gene mutation, IVS-II-848 (C>A) (HBB: c.316-3C>A) in association with IVS-I-1 (G>A) (HBB: c.92 + 1G>A), observed in a Syrian family: a case report.

Shoujaa A et al.

Hemoglobin, 0

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