bafopathies

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Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.
Cali, Elisa;Quirin, Tania;Rocca, Clarissa;Efthymiou, Stephanie;Riva, Antonella;Marafi, Dana;Zaki, Ma...
2024 Genetics in medicine : official journal of the Ame... DOI: 10.1016/j.gim.2024.1... 49 views

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autism ribosomopathies actl6b epileptic-dyskinetic encephalopathy