Exocyst

Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood
Adel Shalata, Supanun Lauhasurayotin, Zvi Leibovitz, Hongbing Li, Diane Hebert, Santhosh Dhanraj, Yarin Hadid, Mohammed Mahroum, Jacob Bajar, Sandro Egenburg, Ayala Arad, Mordechai Shohat, Sami Haddad, Hassan Bakry, Houtan Moshiri, Stephen W Scherer, Shay Tzur, Yigal Dror

Journal of Medical Genetics May 2019, 56 (5) 340-346; DOI: 10.1136/jmedgenet-2018-105421

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