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Updated: Mar 25, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Dataset for a case report of a homozygous PEX16 F332del mutation
Carlos Bacino1, Yu-Hsin Chao2, Elaine Seto3
1Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Texas Children׳s Hospital, Houston, TX, USA.
Abstract:
This dataset provides a clinical description along with extensive biochemical and molecular characterization of a patient with a homozygous mutation in PEX16 with an atypical phenotype. This patient described in Molecular Genetics and Metabolism Reports was ultimately diagnosed with an atypical peroxisomal disorder on exome sequencing. A clinical timeline and diagnostic summary, results of an extensive plasma and fibroblast analysis of this patient׳s peroxisomal profile is provided. In addition, a table of additional variants from the exome analysis is provided.
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