Work

Novel, deep intronic RB1 variant exhibiting incomplete penetrance and a parent-of-origin effect

Year: 2026

Type: article

Study design: Case Report

Source: Ophthalmic Genetics

DOI: 10.1080/13816810.2026.2626519

Authors: Rebecca Clark, Hilary Racher, Donco Matevski, Yumei Li, Meng Wang, Rui Chen, Alison H. Skalet

Institutions: Oregon Health & Science University, University of Toronto, University of California, Irvine

Language: English

Topic: Ocular Oncology and Treatments

Subfield: Ophthalmology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

Funder: National Eye Institute

Awards: G3122272178, G7515420844

OpenAlex ID: W7130402153

FWCI:

Cites: 15

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