Global Variome shared LOVD
CEP78 (centrosomal protein 78kDa)
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Global Variome, with Curator vacancy
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Phenotype #0000073429
Individual ID
00095041
Associated disease
PYKNODYSOSTOSIS
Phenotype details
see paper; …
Diagnosis/Initial
-
Inheritance
Familial, autosomal recessive
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
2017-01-05 17:59:08 +01:00 (CET)
Date last edited
N/A
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