GenomicsIndian Journal of OphthalmologyPeer-reviewed
Whole Exome Sequencing identifies multiple pathogenic variants in a large south Indian family with Primary Open Angle Glaucoma
Mohd Hussain Shah, Manojkumar Kumaran, Prakash Chermakani…·Periasamy Sundaresan
The paper uses whole exome sequencing to identify pathogenic variants in a South Indian family with Primary Open Angle Glaucoma, finding variants in RPGRIP1 and ARHGEF40 that co-segregate with the disease.
5 citations