Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.R105_L106Splc
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HBD

NM_000519.4:p.R105_L106Splc

Associated Papers

Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs.

Selvatici R et al.

Genes, 2024

Heterozygosity of the Complex Corfu δ0β+ Thalassemic Allele (HBD Deletion and HBB:c.92+5G>A) Revisited

Kattamis C et al.

Biology, 2022

Region-specific genetic heterogeneity of HBB mutation distribution in South-Western Greece.

Papachatzopoulou A et al.

Hemoglobin, 2010

Characterization of three novel delta chain hemoglobin variants and two delta-thalassemia alleles.

Frischknecht H et al.

Hemoglobin, 2010

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