Nicoletta Zoppi

7PUBLICATIONS
40CO-AUTHORS
Disease surveillanceEpigenetics (incl. genome methylation and epigenomics)Molecular evolutionRespiratory diseasesMedical infection agents (incl. prions)
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Publications (7)

|Jan 04, 2023
Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome.

Paola Fortugno, Rosanna Monetta, Valeria Cinquina

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