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Compound heterozygosity for PTPN11 variants in a subject with Noonan syndrome provides insights into the mechanism of SHP2-related disorders

Author:
Lorca Gutiérrez, RebecaUniovi authority; Pannone, L.; Cuesta Llavona, E.; Bocchinfuso, G.; Rodríguez Reguero, José JuliánUniovi authority; Carpentieri, G.; Hernando, Inés; Flex, E.; Tartaglia, M.; Coto García, EliecerUniovi authority; Gómez de Oña, JuanUniovi authority; Martinelli, S.
Publication date:
2021
Publisher version:
http://dx.doi.org/10.1111/cge.13904
Citación:
Clinical Genetics, 99(3), p. 457-461 (2021); doi:10.1111/cge.13904
Descripción física:
p. 457-461
URI:
http://hdl.handle.net/10651/60770
ISSN:
0009-9163
DOI:
10.1111/cge.13904
Patrocinado por:

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).

Id. Proyecto:

MINECO/ISCIII/FEDER/PI17/00648

MINECO/ISCIII/FEDER/RD16/0009/0005

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