Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.R105_L106Splc
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HBD

NM_000519.4:p.R105_L106Splc

Associated Papers

δβ-Thalassemia and α-Triplication: Is Genetic Retesting Worthwhile in Case of Non-Coherent Phenotype?

Giubbilei C et al.

Hemoglobin, 2024

The molecular spectrum and distribution of haemoglobinopathies in Cyprus: a 20-year retrospective study.

Kountouris P et al.

Scientific Reports, 2016

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."