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Listen "Metabolic mysteries: Developmental delay, hepatoblastoma and a VUS"
Episode Synopsis
A child with severe developmental delay and an early-onset tumour sets the stage for a remarkable case of genetic investigation. In this episode, Sally Ann Lynch and Alfonso D’Alessio uncover how functional testing transformed an uncertain variant into a key diagnostic insight.
Read the article: https://doi.org/10.1002/ajmg.a.64275
Read the article: https://doi.org/10.1002/ajmg.a.64275
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