Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.L245insFs
Back to variants list

PRPH2

NM_000322.5:p.L245insFs

Associated Papers

Expanding Genetic and Clinical Spectra of Inherited Retinal Dystrophies: Identification of Three Novel PRPH2 Variants.

Cascella R et al.

Biomedicines, 2025

Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients.

Heath Jeffery RC et al.

Investigative Ophthalmology & Visual Science, 2024

New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review.

Wang Y et al.

International Journal of Molecular Sciences, 2023

37047703 (PubMed )
Supplement: ijms-24-06728-s001.zip › WangYW-PRPH2-sup_Table_S2_sub.xlsx › Sheet1

Multimodal Study of PRPH2 Gene-Related Retinal Phenotypes.

Antonelli G et al.

Diagnostics (basel, Switzerland), 2022

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."