Article

Role of <em>GUCA1C </em>in Primary Congenital Glaucoma and in the Retina: Functional Evaluation in Zebrafish

2020-03-29

Abstract excerpt

Primary congenital glaucoma (PCG) is a heterogeneous, inherited, and severe optical neuropathy caused by apoptotic degeneration of the retinal ganglion cell layer. Whole-exome sequencing analysis of one PCG family identified two affected siblings who carried a low-frequency homozygous nonsense GUCA1C variant (c.52G>T/p.Glu18Ter/rs143174402). This gene encodes GCAP3, a member of the guanylate cyclase activating...

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Literature Corpus work: e73a606a-3408-57bb-be44-915facb13a89
DOI: 10.20944/preprints202003.0424.v1

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