Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.A143V
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HBD

NM_000519.4:p.A143V

Associated Papers

Relative and Absolute Quantification of Aberrant and Normal Splice Variants in HBBIVSI-110 (G > A) β-Thalassemia.

Patsali P et al.

International Journal of Molecular Sciences, 2020

Hb A2 Episkopi - a novel δ-globin chain variant [HBD:c.428C>T] in a family of mixed Cypriot-Lebanese descent.

Lederer CW et al.

Hematology (amsterdam, Netherlands), 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."