Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.L32R
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HBB

NM_000518.5:p.L32R

Associated Papers

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 Calgary (HBB: c.194G>T): A Highly Unstable Hemoglobin Variant with a β-Thalassemia Major Phenotype.

Martin G et al.

Hemoglobin, 2021

Novel dominant β-thalassemia: Hb Boston-Kuwait [codon 139/140(+T)].

Croteau SE et al.

Pediatric Blood & Cancer, 2013

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 new case of the unstable hemoglobin Southampton--Casper(beta106) (G68) leucine--proline)].

Didkovskiĭ NA et al.

Problemy Gematologii I Perelivaniia Krovi, 1976

A De Novo Heterozygous Variant (HBB: c.379delG, p.Val127Cysfs*32) Associated with a Mild β-Thalassemia Intermedia Phenotype in a Turkish Child.

Gürlek-Gökçebay D et al.

Hemoglobin, 0

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