Work

Compound heterozygous variants in PCDH15 non-coding regions in an Usher Syndrome Type 1F patient: minigene assay reveals pathogenicity of c.3123-1G>C

Year: 2025

Type: article

Study design: Case Report

Source: Ophthalmic Genetics

DOI: 10.1080/13816810.2025.2576776

Authors: Jiale Wang, Ya Li, Shun Yao, Qinge Guo, Changgeng Liu, Bo Lei

Institutions: Zhengzhou University, Henan Provincial People's Hospital, Henan Academy of Sciences, Henan Provincial Eye Hospital

Language: English

Topic: Retinal Development and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funder: National Natural Science Foundation of China

Awards: G6700344441, G8038871454

OpenAlex ID: W4415492425

FWCI: 0.261

Cites: 33

Cited by: 1

Related to: