Associated Papers
Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.
Mak CCY et al.
Ebiomedicine, 2025
40280028 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
Reply: MN1 gene loss-of-function mutation causes cleft palate in a pedigree.
Vegas N et al.
Brain : a Journal of Neurology, 2021
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