Associated Papers
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
Yang J et al.
Molecular Genetics & Genomic Medicine, 2018
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders.
Fokstuen S et al.
Human Genomics, 2016
Select a paper to view details