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CalDAG-GEFI Deficiency in a Family with Symptomatic Heterozygous and Homozygous Carriers of a Likely Pathogenic Variant in RASGRP2

RASGRP2 encodes the calcium and diacylglycerol (DAG)-regulated guanine nucleotide exchange factor I (CalDAG-GEFI) identified as a Rap1-activating molecule. Pathogenic variants previously identified in RASGRP2 allowed the characterization of CalDAG-GEFI deficiency as a non-syndromic, autosomal recess...

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Detalles Bibliográficos
Autores principales:	Morais, Sara, Pereira, Mónica, Lau, Catarina, Gonçalves, Ana, Monteiro, Catarina, Gonçalves, Marta, Oliveira, Jorge, Moreira, Lurdes, Cruz, Eugénia, Santos, Rosário, Lima, Margarida
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8618213/ https://www.ncbi.nlm.nih.gov/pubmed/34830306 http://dx.doi.org/10.3390/ijms222212423

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