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A Novel Variant in the HX Repeat Motif of AUTS2 Causing a Severe Phenotype

Didac Casas-Alba, Montserrat Quintana Vidaurri,Antonio Martinez-Monseny, Laura Marti,Cristina Hernando, Adrian Alcala,Francesc Palau,Janet Hoenicka

EUROPEAN JOURNAL OF HUMAN GENETICS（2024）

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