Article
Addressing the needs of nano-rare patients: the n-Lorem experience.
Nucleic acids research - 20 May 2026
Crooke Stanley T, Glass Sarah, Gleeson Joseph G, Mignon Laurence, Skourti-Stathaki Konstantina, Douville Julie, Knutsen Megan, Pu He, Bain Jennifer M, Berry-Kravis Elizabeth, Shneider Neil A, Kim-McManus Olivia, Eichler Florian S, Chung Wendy K, Nagy Amanda, Kaufmann Horacio, Gonzalez-Duarte Alejandra, Oskarsson Björn, McCourt Emily A, Leung Nelson
Abstract excerpt
Patients with extremely rare pathogenic variants pose unique challenges to current healthcare systems. Nano-rare mutations have been defined as mutations with a known prevalence of <30 patients worldwide, but because of the small fraction of humans who have undergone genetic testing, neither the precise prevalence of individual mutations nor the total prevalence of patients with nano-rare mutations is known....
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