Publication

Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.

Journal Paper/Review - Mar 3, 2014

Nesin Vasyl, Wiley Graham, Kousi Maria, Ong E-Ching, Lehmann Thomas, Nicholl David J, Suri Mohnish, Shahrizaila Nortina, Katsanis Nicholas, Gaffney Patrick M, Wierenga Klaas J, Tsiokas Leonidas