Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.V68A
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HBB

NM_000518.5:p.V68A

Associated Papers

Characterization and Confirmation of Mildly Unstable Hb Pontoise or α1 63(E12) Ala > Asp and Literature Review.

Tang B et al.

Hemoglobin, 2025

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

A Japanese Family with the Unstable Hb Sydney (HBB: c.203T>C) Variant and Persistent Low Hemoglobin Oxygen Saturation.

Sakamoto A et al.

Hemoglobin, 2020

Spuriously low pulse oximetry saturation associated with hemoglobin Sydney in a child and relatives: Identification of this unstable hemoglobin may avoid unnecessary testing and hospital admissions.

de Sevilla MF et al.

Pediatric Blood & Cancer, 2017

Coinheritance of Hb Bristol-Alesha [β67(E11)Val→Met; HBB: c.202G>A] and the α212 Patchwork Allele in a Brazilian Child with Severe Congenital Hemolytic Anemia.

Pedroso GA et al.

Hemoglobin, 2017

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
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