Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.A143_H144insA
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HBB

NM_000518.5:p.A143_H144insA

Associated Papers

Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs.

Selvatici R et al.

Genes, 2024

A Case Report of Compound Heterozygosity for β0/β+-Thalassemia Resulting from under Diagnosed β-Thalassemia Found in a Hb A'2 Sample.

Intasai N et al.

Hemoglobin, 2019

Geographical distribution of β-globin gene mutations in Syria.

Murad H et al.

Hematology (amsterdam, Netherlands), 2018

Red blood cells free α-haemoglobin pool: a biomarker to monitor the β-thalassemia intermedia variability. The ALPHAPOOL study.

Vasseur C et al.

British Journal of Haematology, 2017

Rare β-Globin Gene Mutations in Pakistan.

Hussain A et al.

Hemoglobin, 2017

Normal Hb A2 β-thalassemia trait: frameshift mutation (HBB: c.187_251dup) in cis with the Hb A2' δ-globin gene missense mutation (HBD: c.49G>C).

Waye JS et al.

Hemoglobin, 2013

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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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."