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

Authors

Celso Maciel da Costa (ORCID: https://orcid.org/0000-0002-7111-1002)
Rufino Silva (ORCID: https://orcid.org/0000-0001-8676-0833)
В. В. Костин (ORCID: https://orcid.org/0000-0002-9674-0542)
Carlos Eduardo Nogueira (ORCID: https://orcid.org/0009-0001-5495-3339)
Joaquim Murta (ORCID: https://orcid.org/0000-0001-8926-5176)
João Pedro Marques (ORCID: https://orcid.org/0000-0002-1014-0483)
Ana Luísa Carvalho (ORCID: https://orcid.org/0009-0004-0695-7206)

Institutions

University of Basel (CH)
Hospitais da Universidade de Coimbra (PT)
University of Oxford (GB)
Oxford University Hospitals NHS Trust (GB)
University of Coimbra (PT)

Publication Details

Journal: Acta Ophthalmologica
Published: 2025-02-21
DOI: https://doi.org/10.1111/aos.17470
Primary Topic: Immunodeficiency and Autoimmune Disorders
Type: article
Field-Weighted Citation Impact: 0.00

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article

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

Celso Maciel da Costa, Rufino Silva, В. В. Костин, Carlos Eduardo Nogueira et al.

Feb 21, 2025

Acta Ophthalmologica

Immunodeficiency and Autoimmune Disorders

article

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

Celso Maciel da Costa, Rufino Silva, В. В. Костин, Carlos Eduardo Nogueira, Joaquim Murta, João Pedro Marques, Ana Luísa Carvalho

February 21, 2025article en

Abstract

No abstract available for this paper.

Acta OphthalmologicaVol. 103(5)

University of Basel (CH), Hospitais da Universidade de Coimbra (PT), University of Oxford (GB), Oxford University Hospitals NHS Trust (GB), University of Coimbra (PT)

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Openalex Percentile: Top 96%

Immunodeficiency and Autoimmune Disorders

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