Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome via alteration of metabolic signaling
Chapman, Kimberly A, Ullah, Farid, Yahiku, Zachary A, Kodiparthi, Sri Varsha, Kellaris, Georgios, Correia, Sandrina P, Stödberg, Tommy, Sofokleous, Christalena, Marinakis, Nikolaos M, Fryssira, Helena, Tsoutsou, Eirini, Traeger-Synodinos, Jan, Accogli, Andrea, Salpietro, Vincenzo, Striano, Pasquale, Berger, Seth I, Pond, Kelvin W, Sirimulla, Suman, Davis, Erica E, Bhattacharya, Martha Rc
Published in medRxiv : the preprint server for health sciences (01.07.2024)
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Published in medRxiv : the preprint server for health sciences (01.07.2024)
Journal Article