A comprehensive map of missense trafficking variants in rhodopsin and their response to pharmacologi...
A comprehensive map of missense trafficking variants in rhodopsin and their response to pharmacologic correction
About this item
Full title
Author / Creator
Publisher
United States: Cold Spring Harbor Laboratory Press
Journal title
Language
English
Formats
Publication information
Publisher
United States: Cold Spring Harbor Laboratory Press
Subjects
More information
Scope and Contents
Contents
Rhodopsin (
) missense variants are a leading cause of autosomal dominant retinitis pigmentosa (adRP), a progressive retinal degeneration with no currently approved therapies. Interpreting the pathogenicity of the growing number of identified
variants is a major clinical challenge, and understanding their disease mechanisms is essential for d...
Alternative Titles
Full title
A comprehensive map of missense trafficking variants in rhodopsin and their response to pharmacologic correction
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_journals_3173595213
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_3173595213
Other Identifiers
ISSN
2692-8205
E-ISSN
2692-8205
DOI
10.1101/2025.02.27.640335
