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Metadata

Name
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"
Repository
ZENODO
Identifier
doi:10.5281/zenodo.4670297
Description
dataset contains clinical data on a patient included in the study referred to Fondazione Besta
Data or Study Types
multiple
Source Organization
Unknown
Access Conditions
available
Year
2021
Access Hyperlink
https://doi.org/10.5281/zenodo.4670297

Distributions

  • Encoding Format: HTML ; URL: https://doi.org/10.5281/zenodo.4670297
This project was funded in part by grant U24AI117966 from the NIH National Institute of Allergy and Infectious Diseases as part of the Big Data to Knowledge program. We thank all members of the bioCADDIE community for their valuable input on the overall project.