Article

PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease

2021-03-13

Abstract excerpt

Mutations in PRPH2, encoding peripherin-2, are associated with the development of a wide variety of inherited retinal diseases (IRDs). To determine the causality of the many PRPH2 variants that have been discovered over the last decades, we surveyed all published PRPH2 variants up to July 2020, describing 720 index patients that in total carried 245 unique variants. In addition, we identified seven novel PRPH2 var...

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Literature Corpus work: f270af00-9786-56b7-9e8e-b7d7dd361ae2
DOI: 10.22541/au.161566715.59976839/v1

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