PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
Camille Tremblay-LaganièreReza MaroofianThi Tuyet Mai NguyenEhsan Ghayoor KarimianiSalman KirmaniFizza AkbarShahnaz IbrahimBushra AfrozeMohammad DoostiFarah AshrafzadehMeisam BabaeiStephanie EfthymiouMarilena ChristoforouTipu SultanRoger L LaddaHeather M McLaughlinRebecca TrutySonal MahidaJulie S CohenKristin BarananoFatima Y IsmailMillan S PatelAnna LehmanAndrew C EdmondsonAmanda NagyMelissa A WalkerSaadet Mercimek-AndrewsYuta MakiRani SachdevRebecca MacintoshElizabeth E PalmerGrazia M S ManciniTahsin Stefan BarakatRobert SteinfeldChristina T RüschGeorg M StettnerMatias WagnerSaskia B WortmannUsha KiniAngela F BradyKaren L StalsNaila IsmayilovaSian EllardDanilo BernardoKimberly NugentScott D McLeanStylianos E AntonarakisHenry HouldenTaroh KinoshitaPhilippe M CampeauYoshiko MurakamiPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)
This in vitro system is a useful method to validate the pathogenicity of variants in PIGG and to study PIGG physiological functions.