Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.G108D
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HBD

NM_000519.4:p.G108D

Associated Papers

Wide spectrum of novel and rare hemoglobin variants in the multi-ethnic Indian population: A review.

Thaker P et al.

International Journal of Laboratory Hematology, 2024

Analysis of deletional hereditary persistence of fetal hemoglobin/δβ-thalassemia and δ-globin gene mutations in Southerwestern China.

Zhang J et al.

Molecular Genetics & Genomic Medicine, 2019

The phenotypic and molecular diversity of hemoglobinopathies in India: A review of 15 years at a referral center.

Nadkarni AH et al.

International Journal of Laboratory Hematology, 2019

A New δ-Globin Gene Variant: Hb A2-Fengshun [δ121(GH4)Glu→Lys (HBD: c.364G > A)].

Yan JM et al.

Hemoglobin, 2016

The mechanism by which TATA-box polymorphisms associated with human hereditary diseases influence interactions with the TATA-binding protein.

Drachkova I et al.

Human Mutation, 2014

A novel δ-globin gene mutation (HBD: c.323G>A) masking the diagnosis of β-thalassemia: a first report from India.

Jain S et al.

International Journal of Hematology, 2012

Hb A2-Tianhe (HBD: c.323G>A): First Report in a Chinese Family with Normal Hb A2-β-Thalassemia Trait.

Chen GL et al.

Hemoglobin, 0

A Novel Mutation of the δ-Globin Gene in an Asymptomatic 30-Year-Old Female.

Di Bella C et al.

Acta Haematologica, 0

Rare β- and δ-Globin Gene Mutations in the Pathare Prabhus: Original Inhabitants of Mumbai, India.

Gorakshakar AC et al.

Hemoglobin, 0

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