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TOPORS as a novel causal gene for Joubert syndrome

Strong, A; Qu, HQ; Cullina, S; McManus, ML; Zackai, EH; Glessner, J; Kenny, EE; Hakonarson, H

Hakonarson, H (通讯作者),Univ Penn, Childrens Hosp Philadelphia, Perelman Sch Med, Ctr Appl Genom,Endowed Chair Genom Res,Joseph Stok, 3615 Civ Ctr Blvd, Philadelphia, PA 19104 USA.;Strong, A (通讯作者),Childrens Hosp Philadelphia, Div Human Genet, 3615 Civ Ctr Blvd, Philadelphia, PA 19104 USA.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2023; 191 (8): 2156

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