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Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants.
Eur J Hum Genet. 2023 Jul;31(7):805-814. doi: 10.1038/s41431-023-01351-7. Epub 2023 Apr 14.
Eur J Hum Genet. 2023.
PMID: 37059841
Free PMC article.
Review.
Assessment of the FRET-based Teen sensor to monitor ERK activation changes preceding morphological defects in a RASopathy zebrafish model and phenotypic rescue by MEK inhibitor.
Fasano G, Petrini S, Bonavolontà V, Paradisi G, Pedalino C, Tartaglia M, Lauri A.
Fasano G, et al.
Mol Med. 2024 Apr 9;30(1):47. doi: 10.1186/s10020-024-00807-w.
Mol Med. 2024.
PMID: 38594640
Free PMC article.
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