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Unique Ataxia oculomotor apraxia 2 (AOA2, OMIM #606002) case in Israel: Expanding the phenotypic spectrum, highlighting novel variants and possible identification of a poison exon

Penina Ponger, Alina Kurlop, Hofit Gadot,Adi Mory, Yael Winai,Nir Giladi, Tatyana Gurevich,Daphna Marom,Yuval Yaron,Hagit Baris Feldman

EUROPEAN JOURNAL OF HUMAN GENETICS（2023）

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