Data related to article "A recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy"
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资源简介：
dataset contains clinical data on a patient included in the study referred to Fondazione Besta
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Zenodo创建时间：
2021-04-07
