Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.C94G
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HBD

NM_000519.4:p.C94G

Associated Papers

Hb A2-Pontedera [δ93(F9) Cys > Trp; HBD: C.282T > G]: A New δ-Globin Chain Variant Detected by Screening Tests for Hemoglobinopathies.

Maffei M et al.

Hemoglobin, 2024

Haemoglobinopathies that occur with decreased HbA2 levels: a gene mutation set involving the δ gene at a Spanish centre.

Villegas A et al.

Journal of Clinical Pathology, 2017

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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."