Global Variome shared LOVD
RAPGEF5 (Rap guanine nucleotide exchange factor (G...))
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Global Variome, with Curator vacancy
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Phenotype #0000087605
Individual ID
00111798
Associated disease
myotonia congenita (AR)
Phenotype details
Thomsen
Diagnosis/Initial
-
Inheritance
Familial, autosomal dominant
Diagnosis/Definite
-
Age/Examination
-
Age/Diagnosis
-
Age/Onset
-
Phenotype/Onset
-
Protein
-
Owner name
Johan den Dunnen
Database submission
license
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International
Created by
Johan den Dunnen
Date created
2007-05-21 12:00:00 +02:00 (CEST)
Date last edited
2018-02-23 18:02:13 +01:00 (CET)
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