Article

Phenotypic consequences of a nanophthalmos-associated TMEM98 variant in human and mouse

2023-04-19

Abstract excerpt

Nanophthalmos is characterised by shorter posterior and anterior segments of the eye, with a predisposition towards high hyperopia and primary angle-closure glaucoma. Variants in TMEM98 have been associated with autosomal dominant nanophthalmos in multiple kindreds, but definitive evidence for causation has been limited. Here we used CRISPR/Cas9 mutagenesis to recreate the human nanophthalmos-associated TMEM98 p.A...

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Identifiers and source

Literature Corpus work: 9a89d9ea-81aa-52c7-973e-99502ef405d1
DOI: 10.21203/rs.3.rs-2768991/v1

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