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Expression of Wiskott-Aldrich syndrome protein (WASP) gene during hematopoietic differentiation.
Blood. 1997 Jul 1;90(1):70-5.
Blood. 1997.
PMID: 9207440
Free article.
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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Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A.
Jain S, Trinidad M, Nguyen TB, Jones K, Neto SD, Ge F, Glagovsky A, Jones C, Moran G, Wang B, Rahimi K, Çalıcı SZ, Cedillo LR, Berardelli S, Özden B, Chen K, Katsonis P, Williams A, Lichtarge O, Rana S, Pradhan S, Srinivasan R, Sajeed R, Joshi D, Faraggi E, Jernigan R, Kloczkowski A, Xu J, Song Z, Özkan S, Padilla N, de la Cruz X, Acuna-Hidalgo R, Grafmüller A, Jiménez Barrón LT, Manfredi M, Savojardo C, Babbi G, Martelli PL, Casadio R, Sun Y, Zhu S, Shen Y, Pucci F, Rooman M, Cia G, Raimondi D, Hermans P, Kwee S, Chen E, Astore C, Kamandula A, Pejaver V, Ramola R, Velyunskiy M, Zeiberg D, Mishra R, Sterling T, Goldstein JL, Lugo-Martinez J, Kazi S, Li S, Long K, Brenner SE, Bakolitsa C, Radivojac P, Suhr D, Suhr T, Clark WT.
Jain S, et al. Among authors: berardelli s.
bioRxiv [Preprint]. 2024 Jun 17:2024.05.16.594558. doi: 10.1101/2024.05.16.594558.
bioRxiv. 2024.
PMID: 38798479
Free PMC article.
Preprint.
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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.
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