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 deficienc...

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Autores principales:	Sara Morais, Mónica Pereira, Catarina Lau, Ana Gonçalves, Catarina Monteiro, Marta Gonçalves, Jorge Oliveira, Lurdes Moreira, Eugénia Cruz, Rosário Santos, Margarida Lima
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	platelets <i>RASGRP2</i> CalDAG-GEFI deficiency platelet function diseases Biology (General) QH301-705.5 Chemistry QD1-999
Acceso en línea:	https://doaj.org/article/a405991a6b0f42dc875ca6672994f245
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CalDAG-GEFI Deficiency in a Family with Symptomatic Heterozygous and Homozygous Carriers of a Likely Pathogenic Variant in <i>RASGRP2</i>

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