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Article

Alternative splicing and retinal degeneration.

Clinical genetics - 1 Aug 2013

Liu M M, Zack D J

Abstract excerpt

Alternative splicing is highly regulated in tissue-specific and development-specific patterns, and it has been estimated that 15% of disease-causing point mutations affect pre-mRNA splicing. In this review, we consider the cis-acting splice site and trans-acting splicing factor mutations that affect pre-mRNA splicing and contribute to retinal degeneration. Numerous splice site mutations have been identified in...

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Share to Alternative Splicing
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 23647439
DOI: 10.1111/cge.12181
PMCID: PMC4147722

Genes

PRPF3
PRPF31
PRPF8
RPGR

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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