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

Internet

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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