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Functional analysis of PLXNA1 variants in a novel neurodevelopmental syndrome with oculo-cerebral anomalies

Paulina Z. M. Kempe,Oznur Yilmaz,Tobias T. Lindenberg,Jaya Punetha,Jeshurun C. Kalanithy,Haktan B. Erdem,Zeynep C. Akdemir,Ender Karaca,Tadahiro Mitani,Dana Marafi,Jawid M. Fatih,Shalini N. Jhangiani, Boris Keren,Julien Buratti Buratti,Perrine Charles, Caroline Nava,Davut Pehlivan,Jennifer E. Posey,James R. Lupski, Ben Odermatt,Heiko Reutter,Gabriel C. Dworschak

EUROPEAN JOURNAL OF HUMAN GENETICS（2022）

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