Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.K60delFs
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HBD

NM_000519.4:p.K60delFs

Associated Papers

Difficult Cases in the Diagnosis of Thalassemia Syndromes.

Canatan D et al.

Hemoglobin, 2026

Hb Knossos (HBB: c.82G > T), β-globin CD 5 (-CT) (HBB: c.17_18delCT) and δ-globin CD 59 (-a) (HBD: c.179delA) mutations in a Syrian patient with β-thalassemia intermedia.

Moassas F et al.

Bmc Pediatrics, 2019

The molecular spectrum and distribution of haemoglobinopathies in Cyprus: a 20-year retrospective study.

Kountouris P et al.

Scientific Reports, 2016

Borderline HbA2 levels: Dilemma in diagnosis of beta-thalassemia carriers.

Colaco S et al.

Mutation Research. Reviews in Mutation Research, 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."