Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.E7V
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HBD

NM_000519.4:p.E7V

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

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

Profile of Hemoglobin D (HbD) Disease in Eastern Uttar Pradesh: A Single-Center Experience.

Gupta V et al.

Cureus, 2022

De novo mutation rates at the single-mutation resolution in a human HBB gene region associated with adaptation and genetic disease.

Melamed D et al.

Genome Research, 2022

35031571 (PubMed )
Supplement: supp_gr.276103.121_Supplemental_Material.pdf

A study of δ-globin gene mutations in the UK population: identification of three novel variants and development of a novel DNA test for Hb A'2.

Khalil MS et al.

Hemoglobin, 2014

Analysis of delta-globin gene alleles in the Sicilian population: identification of five new mutations.

Giambona A et al.

Haematologica, 2006

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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."