International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias

With the advent of precision and genomic medicine, a critical issue is whether a disease gene variant is pathogenic or benign. Such is the case for the three autosomal dominant acute hepatic porphyrias (AHPs), including acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria...

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Publicado no:Genet Med
Main Authors: Chen, Brenden, Whatley, Sharon, Badminton, Michael, Aarsand, Aasne K., Anderson, Karl E., Bissell, D. Montgomery, Bonkovsky, Herbert L., Cappellini, Maria D., Floderus, Ylva, Friesema, Edith C. H., Gouya, Laurent, Harper, Pauline, Kauppinen, Raili, Loskove, Yonina, Martásek, Pavel, Phillips, John D., Puy, Hervé, Sandberg, Sverre, Schmitt, Caroline, To-Figueras, Jordi, Weiss, Yedidyah, Yasuda, Makiko, Deybach, Jean-Charles, Desnick, Robert J.
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7229570/
https://ncbi.nlm.nih.gov/pubmed/31073229
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-019-0537-7
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