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Article

Whole Exome Sequencing identifies multiple pathogenic variants in a large south Indian family with Primary Open Angle Glaucoma

2020-09-23

Abstract excerpt

<h4>Purpose</h4> To identify the pathogenic variants associated with POAG by using Whole Exome Sequencing (WES) data of a large South Indian family. <h4>Methods</h4> We recruited a large five generation of South Indian family (n=84) with positive family history of POAG. All study participants had comprehensive ocular evaluation (of the 84, 19 study subjects were diagnosed as POAG). Sanger sequencing of the candi...

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Literature Corpus work
d2005a28-7e05-5df0-868e-0611f67994ad
DOI
10.1101/2020.09.21.306191
Open publication

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Whole Exome Sequencing identifies multiple pathogenic variants in a large south Indian family with Primary Open Angle GlaucomaDOI 10.1101/2020.09.21.306191
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