Work

A novel homozygous missense variant in POC1B causes cone dystrophy in a consanguineous Pakistani family

Year: 2024

Type: article

Study design: Case Report

Source: Ophthalmic Genetics

DOI: 10.1080/13816810.2024.2430700

Authors: Asad Munir, Inam Ullah Khan, Abdur Rashid, Ijaz Anwar, Sabawoon Shah, Sergey Oreshkov, Mukhtar Ullah, Haider Ali Khan, Ubaid Ullah, Ashfaq Ahmad, Muhammad Ansar, Atta Ur Rehman

Institutions: Hazara University, Saidu Teaching Hospital, Fondation Asile des Aveugles, University of Lausanne, Gomal University, University of Basel, Institute of Molecular and Clinical Ophthalmology Basel, Dow University of Health Sciences

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: Higher Education Commision, Pakistan

OpenAlex ID: W4404604162

FWCI:

Cites: 34

Cited by:

Related to: 10