Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.H46Q
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HBA1

NM_000558.5:p.H46Q

Associated Papers

Unveiling the double-edged sword: SOD1 trimers possess tissue-selective toxicity and bind septin-7 in motor neuron-like cells.

Choi ES et al.

Structure (london, England : 1993), 2024

Molecular basis and diagnosis of thalassemia.

Lee JS et al.

Blood Research, 2021

The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.

Sun J et al.

Genomics, Proteomics & Bioinformatics, 2020

32827758 (PubMed )
Supplement: mmc12.xlsx › Supplementary_table_6

Haemoglobinopathies that occur with decreased HbA2 levels: a gene mutation set involving the δ gene at a Spanish centre.

Villegas A et al.

Journal of Clinical Pathology, 2017

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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."