Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling.
John E RichterCharitha VadlamudiSarah K MacklinAyesha SamreenHaytham HelmiDaniel BroderickAhmed N MohammadStephanie L HinesJay A VanGerpenPaldeep S AtwalThomas R CaulfieldPublished in: Case reports in genetics (2020)
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.