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

Incidental finding of rare hemoglobin: hemoglobin Bari in northeast Spain.

Lahoz Alonso R et al.

Advances in Laboratory Medicine, 2023

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
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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."