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Compound heterozygosity for PTPN11 variants in a subject with Noonan syndrome provides insights into the mechanism of SHP2-related disorders
| dc.contributor.author | Lorca Gutiérrez, Rebeca | |
| dc.contributor.author | Pannone, L. | |
| dc.contributor.author | Cuesta Llavona, E. | |
| dc.contributor.author | Bocchinfuso, G. | |
| dc.contributor.author | Rodríguez Reguero, José Julián | |
| dc.contributor.author | Carpentieri, G. | |
| dc.contributor.author | Hernando, Inés | |
| dc.contributor.author | Flex, E. | |
| dc.contributor.author | Tartaglia, M. | |
| dc.contributor.author | Coto García, Eliecer | |
| dc.contributor.author | Gómez de Oña, Juan | |
| dc.contributor.author | Martinelli, S. | |
| dc.date.accessioned | 2021-11-09T07:32:17Z | |
| dc.date.available | 2021-11-09T07:32:17Z | |
| dc.date.issued | 2021 | |
| dc.identifier.citation | Clinical Genetics, 99(3), p. 457-461 (2021); doi:10.1111/cge.13904 | |
| dc.identifier.issn | 0009-9163 | |
| dc.identifier.uri | http://hdl.handle.net/10651/60770 | |
| dc.description.sponsorship | This work was supported by Italian Ministry of Health (RicercaCorrente2020), AIRC (IG21614), EJP-RD (NSEuroNet) to MT, and by Spanish Ministerio de Economía y Competitividad-Instituto de Salud Carlos III and Fondos Europeos de Desarrollo Regional (FEDER funds; PI17/00648, RETIC RD16/0009/0005). | |
| dc.format.extent | p. 457-461 | |
| dc.language.iso | eng | |
| dc.relation.ispartof | Clinical Genetics | |
| dc.rights | © 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd | |
| dc.source | Scopus | |
| dc.source.uri | https://www.scopus.com/inward/record.uri?eid=2-s2.0-85099050262&doi=10.1111%2fcge.13904&partnerID=40&md5=6818bcc9d23f54c9414d425ba5c472e2 | |
| dc.title | Compound heterozygosity for PTPN11 variants in a subject with Noonan syndrome provides insights into the mechanism of SHP2-related disorders | |
| dc.type | journal article | |
| dc.identifier.doi | 10.1111/cge.13904 | |
| dc.relation.projectID | MINECO/ISCIII/FEDER/PI17/00648 | |
| dc.relation.projectID | MINECO/ISCIII/FEDER/RD16/0009/0005 | |
| dc.relation.publisherversion | http://dx.doi.org/10.1111/cge.13904 |
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