Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.R105_L106Splc
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HBD

NM_000519.4:p.R105_L106Splc

Associated Papers

Molecular and hematological characteristics of two different δ-globin promoter variants, δ-276(A>G) and δ-77(T >C) among Thai, Burmese, and Laotian subjects.

Panyasai S et al.

Peerj, 2025

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

39858575 (PubMed )
Supplement: genes-16-00028-s001.zip › genes-3372072-supplementary.pdf

Prospective screening for δ-hemoglobinopathies associated with decreased hemoglobin A2 levels or hemoglobin A2 variants: A single center experience.

Hanart C et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2023

δ-Hemoglobinopathies in Thailand: screening, molecular basis, genotype-phenotype interaction, and implication for prevention and control of thalassemia.

Singha K et al.

Annals of Hematology, 2021

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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."