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Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A.
bioRxiv [Preprint]. 2024 Jun 17:2024.05.16.594558. doi: 10.1101/2024.05.16.594558.
bioRxiv. 2024.
PMID: 38798479
Free PMC article.
Preprint.
VarChat: the generative AI assistant for the interpretation of human genomic variations.
De Paoli F, Berardelli S, Limongelli I, Rizzo E, Zucca S.
De Paoli F, et al. Among authors: berardelli s.
Bioinformatics. 2024 Mar 29;40(4):btae183. doi: 10.1093/bioinformatics/btae183.
Bioinformatics. 2024.
PMID: 38579245
Free PMC article.
Item in Clipboard
Expression of Wiskott-Aldrich syndrome protein (WASP) gene during hematopoietic differentiation.
Parolini O, Berardelli S, Riedl E, Bello-Fernandez C, Strobl H, Majdic O, Knapp W.
Parolini O, et al. Among authors: berardelli s.
Blood. 1997 Jul 1;90(1):70-5.
Blood. 1997.
PMID: 9207440
Free article.
Item in Clipboard
High prevalence of nonsense, frame shift, and splice-site mutations in 16 patients with full-blown Wiskott-Aldrich syndrome.
Wengler GS, Notarangelo LD, Berardelli S, Pollonni G, Mella P, Fasth A, Ugazio AG, Parolini O.
Wengler GS, et al. Among authors: berardelli s.
Blood. 1995 Nov 15;86(10):3648-54.
Blood. 1995.
PMID: 7579329
Free article.
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