Published July 21, 2020
| Version v1
Dataset
Restricted
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"
Description
dataset contains clinical data on a patient included in the study referred to Fondazione Besta
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Additional details
Related works
- Is supplemented by
- Journal article: 10.3389/fgene.2020.565868 (DOI)