Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.F42S
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HBB

NM_000518.5:p.F42S

Associated Papers

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

Yıldırım AT et al.

Hemoglobin, 2023

Hemoglobin Denver, a cause of desaturated pulse oximetry. A pediatric case report.

Rossetti E et al.

Archivos Argentinos De Pediatria, 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

Hb F-Avellino [(G)γ41(C7)Phe → Leu; HBG2: c.124 T > C]: A New Hemoglobin Variant Observed In A Healthy Newborn.

Pirastru M et al.

Hemoglobin, 2016

Automated analysis of hemoglobin variants using nanoLC-MS and customized databases.

Das R et al.

Journal of Proteome Research, 2013

23692286 (PubMed )
Supplement: pr4000625_si_001.pdf

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

Park S et al.

Hemoglobin, 2012

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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."