Global Variome shared LOVD

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Phenotype #0000162960 Individual ID 00214508 Associated disease hCK Phenotype details CPK elevated (HP:0003236) Diagnosis/Initial hyperCKemia Inheritance Unknown Diagnosis/Definite hCK Age/Examination - Age/Diagnosis 11y Age/Onset - Phenotype/Onset - Protein WB CAPN3 normal, altered autocatalytic activity Owner name Marina Fanin Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2007-12-28 12:02:22 +01:00 (CET) Date last edited 2012-03-09 19:39:00 +01:00 (CET)

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