Phenotype #0000060491

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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	Curator: Global Variome, with Curator vacancy

Individual ID	00080922
Associated disease	PCKDC
Phenotype details	Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency (OMIM:261680)
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Daniel Trujillano
Database submission license
Created by	Johan den Dunnen
Date created	2016-09-07 13:24:08 +02:00 (CEST)
Date last edited	N/A

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