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A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation

Vill, Katharina ; Müller-Felber, Wolfgang ; Alhaddad, Bader ; Strom, Tim M. ; Teusch, Veronika ; Weigand, Heike ; Blaschek, Astrid ; Meitinger, Thomas ; Haack, Tobias B.

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