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Article

EYS mutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosa.

Human mutation - 1 Feb 2018

Messchaert Muriël, Haer-Wigman Lonneke, Khan Muhammad I, Cremers Frans P M, Collin Rob W J

Abstract excerpt

Mutations in Eyes shut homolog (EYS) are one of the most common causes of autosomal recessive (ar) retinitis pigmentosa (RP), a progressive blinding disorder. The exact function of the EYS protein and the pathogenic mechanisms underlying EYS-associated RP are still poorly understood, which hampers the interpretation of the causality of many EYS variants discovered to date. We collected all reported EYS variants...

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Source

Identifiers

PMID: 29159838
DOI: 10.1002/humu.23371

Genes

EYS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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