Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.F43S
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HBB

NM_000518.5:p.F43S

Associated Papers

Successful Treatment of a Child with Hemoglobin Hammersmith with Hematopoietic Stem Cell Transplantation.

Yıldırım AT et al.

Hemoglobin, 2023

Case report: Curing a rare, unstable hemoglobin variant Hb Bristol-Alesha using haploidentical hematopoietic stem cell transplantation.

Zhang Q et al.

Frontiers in Immunology, 2023

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-Full_dataset

Successful haploidentical hematopoietic stem cell transplantation (HSCT) and durable engraftment by repeated donor lymphocyte infusions for a Chinese patient with transfusion-dependent hemoglobin (Hb) Hammersmith and massive splenomegaly.

Chan WYK et al.

Pediatric Transplantation, 2022

Consideration of Splenectomy in Unstable Hemoglobinopathy: A Case Report of Hb Hammersmith (HBB: c.128T>C).

Pesce MM et al.

Hemoglobin, 2022

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _B__Y2H-SI_disMut_edgotypes

Mutation Edgotype Drives Fitness Effect in Human.

Ghadie M et al.

Frontiers in Bioinformatics, 2021

36303776 (PubMed )
Supplement: Table2.XLSX › _B__Y2H-SI_pathMt_edgotype

Hb Oslo [β42(CD1)Phe→Ile; HBB: c.127T>A]: A Novel Unstable Hemoglobin Variant Found in a Norwegian Patient.

Grimholt RM et al.

Hemoglobin, 2018

Haploidentical Stem Cell Transplantation With TCR Alpha/Beta and CD19 Depletion in a Case of Unstable Hemoglobin Disease.

Kumar K et al.

Transplantation, 2018

Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies.

Shang X et al.

Ebiomedicine, 2017

28865746 (PubMed )
Supplement: mmc1.docx

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

Case report: prenatal diagnosis of Hb Hammersmith [β42(CD1)Phe→Ser; HBB: c.128T > C] in a family with an adult male patient.

Li R et al.

Hemoglobin, 2014

A case report of a male patient with Hb Hammersmith [β42(CD1)Phe→Ser, TTT>TCT].

Park S et al.

Hemoglobin, 2012

Occurrence of common and rare δ-globin gene defects in two multiethnic populations: thirteen new mutations and the significance of δ-globin gene defects in β-thalassemia diagnostics.

Phylipsen M et al.

International Journal of Laboratory Hematology, 2011

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_
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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."