Response to Luzzatto et al
- PMID: 37922886
- PMCID: PMC10645562
- DOI: 10.1016/j.ajhg.2023.10.004
Response to Luzzatto et al
Comment on
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Potentially pathogenic and pathogenic G6PD variants.Am J Hum Genet. 2023 Nov 2;110(11):1983-1985. doi: 10.1016/j.ajhg.2023.10.003. Am J Hum Genet. 2023. PMID: 37922885 Free PMC article. No abstract available.
References
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- Luzzatto L., Nannelli C., Notaro R. Potentially pathogenic and pathogenic G6PD variants. Am. J. Hum. Genet. 2023;110:1983–1985. - PubMed
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- Richards S., Aziz N., Bale S., Bick D., Das S., Gastier-Foster J., Grody W.W., Hegde M., Lyon E., Spector E., et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. 2015;17:405–424. - PMC - PubMed
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- Johnston J.J., Dirksen R.T., Girard T., Gonsalves S.G., Hopkins P.M., Riazi S., Saddic L.A., Sambuughin N., Saxena R., Stowell K., et al. Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility. Genet. Med. 2021;23:1288–1295. - PMC - PubMed
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