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PubMed (GeneRIF) for id: 94

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Hereditary hemorrhagic telangiectasia: First demonstration of a founder effect in Italy; the ACVRL1 c.289_294del variant originated in the country of Bergamo 200 years ago.
Sbalchiero A, Abu Hweij Y, Mazza T, Buscarini E, Scotti C, Pagella F, Manfredi G, Matti E, Spinozzi G, Olivieri C. Sbalchiero A, et al. Mol Genet Genomic Med. 2022 Aug;10(8):e1972. doi: 10.1002/mgg3.1972. Epub 2022 May 27. Mol Genet Genomic Med. 2022. PMID: 35620871 Free PMC article.
146 results