Work

Expanding the phenotypical spectrum of the c. 1876C >T p.( Leu626Phe ) variant in IMPG1‐associated disease

Year: 2025

Type: article

Source: Acta Ophthalmologica

DOI: 10.1111/aos.17470

Authors: Carlos Nogueira, Celso Costa, Vasil Kostin, Rufino Silva, Joaquim Murta, Ana Luísa Carvalho, João Pedro Marques

Institutions: Unidade Local de Saúde de Coimbra, University of Basel, University of Oxford, Oxford University Hospitals NHS Trust, University of Coimbra

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: bronze

OpenAlex ID: W4407841492

FWCI: 0.508

Cites: 6

Cited by: 2

Related to: 10