CAD deficiency: Beyond the genetics
In an ensemble piece, Dr Saskia Wortmann, Dr Hud …
An episode of the JIMD Podcasts podcast, hosted by Journal of Inherited Metabolic Disease, titled "CAD deficiency: Beyond the genetics" was published on November 10, 2023 and runs 20 minutes.
November 10, 2023 ·20m · JIMD Podcasts
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Summary
In an ensemble piece, Dr Saskia Wortmann, Dr Hud Freeze, and Dr Santiago Ramón-Maiques discuss CAD deficiency and the challenge of finding new ways to validate genetic variants when pathogenicity seems uncertain. Beyond genetics: Deciphering the impact of missense variants in CAD deficiency Francisco del Caño-Ochoa, et al https://doi.org/10.1002/jimd.12667
Episode Description
In an ensemble piece, Dr Saskia Wortmann, Dr Hud Freeze, and Dr Santiago Ramón-Maiques discuss CAD deficiency and the challenge of finding new ways to validate genetic variants when pathogenicity seems uncertain.
Beyond genetics: Deciphering the impact of missense variants in CAD deficiency
Francisco del Caño-Ochoa, et al
https://doi.org/10.1002/jimd.12667
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