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, Mohideen Abdul Kader, Renagappa Ramakrishnan, Subbiah Ramasamy Krishnadas, Bharanidharan Devarajan, 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.
Indian Journal of Ophthalmology · Aug 25, 2021Peer-reviewedGenomics