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Article

Signal Peptide Variants in Inherited Retinal Diseases: A Multi-Institutional Case Series.

International journal of molecular sciences - 1 Nov 2022

Jimenez Hiram J, Procopio Rebecca A, Thuma Tobin B T, Marra Molly H, Izquierdo Natalio, Klufas Michael A, Nagiel Aaron, Pennesi Mark E, Pulido Jose S

Abstract excerpt

Signal peptide (SP) mutations are an infrequent cause of inherited retinal diseases (IRDs). We report the genes currently associated with an IRD that possess an SP sequence and assess the prevalence of these variants in a multi-institutional retrospective review of clinical genetic testing records. The online databases, RetNet and UniProt, were used to determine which IRD genes possess a SP. A multicenter...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 36362148
DOI: 10.3390/ijms232113361
PMCID: PMC9658040

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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