Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

International journal of molecular sciences - 4 Apr 2023

Wang Yingwei, Wang Junwen, Jiang Yi, Zhu Di, Ouyang Jiamin, Yi Zhen, Li Shiqiang, Jia Xiaoyun, Xiao Xueshan, Sun Wenmin, Wang Panfeng, Zhang Qingjiong

Abstract excerpt

Variants in PRPH2 are a common cause of inherited retinal dystrophies with high genetic and phenotypic heterogeneity. In this study, variants in PRPH2 were selected from in-house exome sequencing data, and all reported PRPH2 variants were evaluated with the assistance of online prediction tools and the comparative validation of large datasets. All variants were classified based on the American College of Medical...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cohort Studies
Share to East Asian People

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Association Studies

Share to Macular Degeneration

Share to Pedigree

Share to Retinal Dystrophies

Share to Retinitis Pigmentosa

Source

Open in PubMed Open full text

Identifiers

PMID: 37047703
DOI: 10.3390/ijms24076728
PMCID: PMC10095211

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review.PMID 37047703Read ↗

PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.Semantic proximity Read ↗

Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel PRPH2 variant (p.Cys250Gly).Semantic proximity Read ↗

PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease.Semantic proximity Read ↗

PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal diseaseSemantic proximity Read ↗

PRPH2-Associated Retinopathy: Novel Variants and Genotype-Phenotype Correlations.Semantic proximity Read ↗

High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features.Semantic proximity Read ↗

PRPH2 mutation as the cause of various clinical manifestations in a family affected with inherited retinal dystrophySemantic proximity Read ↗

A Novel Mutation in the PRPH2 Gene in a Chinese Pedigree with Retinitis Pigmentosa and Angle-closure GlaucomaSemantic proximity Read ↗

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

Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan.Semantic proximity Read ↗

A novel mutation in the PRPH2 gene in a Chinese pedigree with retinitis pigmentosa and angle-closure glaucoma.Semantic proximity Read ↗

Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.