Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.H78delFs
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HBB

NM_000518.5:p.H78delFs

Associated Papers

Molecular and Hematological Analysis of Alpha- and Beta-Thalassemia in a Cohort of Mexican Patients.

Rizo-de la Torre LDC et al.

Genetic Testing and Molecular Biomarkers, 2021

Analysis of a Novel Mexican Variant of the HBB Gene Associated with β-Thalassemia Using Bioinformatic Tools.

Martínez Villegas O et al.

Hemoglobin, 2021

Three novel HBB mutations, c.-140C>G (-90 C>G), c.237_256delGGACAACCTCAAGGGCACCT (FS Cd 78/85 -20 bp), and c.315+2T>G (IVS2:2 T>G). Update of the mutational spectrum of β-Thalassemia in Mexican mestizo patients.

Rizo-de-la-Torre LC et al.

International Journal of Laboratory Hematology, 2017

The Spectrum of β-Thalassemia Mutations in a Population from the Brazilian Amazon.

Silva AN et al.

Hemoglobin, 2016

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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."