Characterization of Two Novel PNKP Splice-Site Variants in a Proband with Microcephaly, Intellectual Disability, and Multiple Malformations.

Ugo Sorrentino,Elisa Baschiera, Maria Andrea Desbats,Orsetta Zuffardi,Leonardo Salviati,Matteo Cassina

American journal of medical genetics Part B, Neuropsychiatric genetics the official publication of the International Society of Psychiatric Genetics（2024）

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