Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.R105_L106Splc
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HBB

NM_000518.5:p.R105_L106Splc

Associated Papers

Spectrum of Beta-Thalassemia Mutations in Potential Carriers with Microcytic Hypochromic Anemia from Mazandaran and Golestan, Northern Provinces of Iran.

Mousavi SS et al.

Biomed Research International, 2024

Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.

Tamana S et al.

Elife, 2022

36453528 (PubMed )
Supplement: elife-79713-supp2.xlsx › Input-HBB

Background splicing as a predictor of aberrant splicing in genetic disease.

Alexieva D et al.

Rna Biology, 2022

35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › Table_S2_DBASS5_index

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 Mexican Families with β thalassemia intermedia with different molecular basis.

Torre LDCR et al.

Genetics and Molecular Biology, 2020

The Scope for Thalassemia Gene Therapy by Disruption of Aberrant Regulatory Elements.

Patsali P et al.

Journal of Clinical Medicine, 2019

31766235 (PubMed )
Supplement: jcm-08-01959-s001.pdf

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

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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."