Associated Papers
A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia.
Jacobs J et al.
Nature, 2025
40836090 (PubMed )
Supplement: 41586_2025_9397_MOESM1_ESM.pdf
The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis.
Diderich KEM et al.
European Journal of Medical Genetics, 2023
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