Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000084537 Individual ID 00106740 Associated disease MYOP Phenotype details Described as congenital myopathy with de novo ACTA1 mutation Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Kristen Nowak Database submission license No license selected Created by Kristen Nowak Date created 2017-07-11 10:18:01 +02:00 (CEST) Date last edited N/A

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