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Genetic Creutzfeldt-Jakob disease in Sardinia: a case series linked to the PRNP R208H mutation due to a single founder effect.
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- Neurogenetics, 2020, v. 21, n. 4, p. 251, doi. 10.1007/s10048-020-00618-1
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- Article
Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 14, p. 7693, doi. 10.3390/ijms22147693
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- Article
A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin.
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- European Journal of Human Genetics, 2013, v. 21, n. 2, p. 154, doi. 10.1038/ejhg.2012.150
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- Article