Global Variome shared LOVD

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Phenotype #0000180472 Individual ID 00240408 Associated disease SMA Phenotype details see paper; ..., sporadic and atypical form of spinal muscular atrophy Diagnosis/Initial atypical spinal muscular atrophy 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 2019-06-19 19:29:57 +02:00 (CEST) Date last edited N/A

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