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

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

<i>RASGRP2</i> 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 <i>RASGRP2</i> allowed the characterization of CalDAG-GEFI deficienc...

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Bibliographic Details
Main Authors: Sara Morais, Mónica Pereira, Catarina Lau, Ana Gonçalves, Catarina Monteiro, Marta Gonçalves, Jorge Oliveira, Lurdes Moreira, Eugénia Cruz, Rosário Santos, Margarida Lima
Format: Article
Language:English
Published: MDPI AG 2021-11-01
Series:International Journal of Molecular Sciences
Subjects:
platelets
<i>RASGRP2</i>
CalDAG-GEFI deficiency
platelet function diseases
Online Access:https://www.mdpi.com/1422-0067/22/22/12423

Internet

https://www.mdpi.com/1422-0067/22/22/12423

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