Associated Papers
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Maroofian R et al.
Brain : a Journal of Neurology, 2023
37517035 (PubMed )
Supplement: awad257_supplementary_data.zip › brain-2023-00192-File007.pdf
The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981*).
Dawidziuk M et al.
Journal of Mother and Child, 2021
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