Global Variome shared LOVD

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Phenotype #0000301981 Individual ID 00409866 Associated disease skeletal dysplasia Diagnosis/Initial NANS-CDG Diagnosis/Definite SEMDG Phenotype details see paper; ... Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset skeletal dysplasia at born Protein NANS Owner name Yohei Masunaga Database submission license Creative Commons Attribution-NonCommercial 4.0 International Created by Yohei Masunaga Date created 2022-05-13 03:13:00 +02:00 (CEST) Date last edited 2023-06-30 10:53:10 +02:00 (CEST)

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