PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
Tremblay-Laganière C, Maroofian R, Nguyen TTM, Karimiani EG, Kirmani S, Akbar F, Ibrahim S, Afroze B, Doosti M, Ashrafzadeh F, et al. Genet Med. 2021 Oct; 23(10):1873-1881. Epub 2021 Jun 10.