Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling.

John E Richter,Charitha Vadlamudi,Sarah K Macklin,Ayesha Samreen,Haytham Helmi,Daniel Broderick,Ahmed N Mohammad,Stephanie L Hines, Jay A VanGerpen,Paldeep S Atwal,Thomas R Caulfield

Case reports in genetics（2020）

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摘要

Data fusion from multiple sources was combined in a comprehensive approach yielding an enriched assessment of the patient's disease and prognosis. Molecular modeling was performed on the variant to better characterize its clinical significance and confirm pathogenicity.

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