CAD deficiency: Beyond the genetics
Nov 10, 2023•20 min
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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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