Thrombospondin 1 missense alleles induce extracellular matrix protein aggregation and TM dysfunction in congenital glaucoma.

Interestingly, a recent analysis of WES data from the UK Biobank ( 43 ) identified a nominally significant gene-based association ( P = 0.01, sequence kernel association test [SKAT]) for THBS1 rare coding variants and POAG (ICD-10 diagnosis code H40), suggesting that further study of rare THBS1 -coding variants in adult-onset POAG might be of interest.

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