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Hemoglobin
international journal for hemoglobin research
Volume 47, 2023 - Issue 4
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Editorial

Submitting Novel Globin Gene Variants to Hemoglobin

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References

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  • Xenophontos M, Minaidou A, Stephanou C, et al. IthaPhen: an interactive database of genotype-phenotype data for hemoglobinopathies. Hemasphere. 2023;7(7):e922. doi:10.1097/HS9.0000000000000922.
  • Giardine BM, Joly P, Pissard S, et al. Clinically relevant updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res. 2021;49(D1):D1192–D1196. doi:10.1093/nar/gkaa959.
  • Landrum MJ, Chitipiralla S, Brown GR, et al. ClinVar: improvements to accessing data. Nucleic Acids Res. 2020;48(D1):D835–D844. doi:10.1093/nar/gkz972.
  • den Dunnen JT, Dalgleish R, Maglott DR, et al. HGVS Recommendations for the Description of Sequence Variants: 2016 Update. Hum Mutat. 2016;37(6):564–569. doi:10.1002/humu.22981.
  • Kountouris P, Stephanou C, Lederer CW, ClinGen Hemoglobinopathy Variant Curation Expert Panel, et al. Adapting the ACMG/AMP variant classification framework: a perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel. Hum Mutat. 2022;43(8):1089–1096. doi:10.1002/humu.24280.

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