Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Finnish Parkinson's disease study integrating protein-protein interaction network data with exome sequencing analysis.
Scientific Reports
Siitonen, Ari A; Kytövuori, Laura L; Nalls, Mike A MA; Gibbs, Raphael R; Hernandez, Dena G DG; Ylikotila, Pauli P; Peltonen, Markku M; Singleton, Andrew B AB; Majamaa, Kari K
Publication Date: 2019-12-11
Variant appearance in text: PABPC1: L593V; rs113574896