Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.L634P
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ABCA4

NM_000350.3:p.L634P

Associated Papers

Ambispective study on the phenotypic progression of patients with Stargardt disease associated with ABCA4 gene mutations.

Martel Ramirez VA et al.

Archivos De La Sociedad Espanola De Oftalmologia, 2025

Identification and functional characterization of ABCA4 gene variants in three patients with Stargardt disease or retinitis pigmentosa.

Luo Q et al.

Frontiers in Genetics, 2025

Different Phenotypes Represent Advancing Stages of ABCA4-Associated Retinopathy: A Longitudinal Study of 212 Chinese Families From a Tertiary Center.

Wang Y et al.

Investigative Ophthalmology & Visual Science, 2022

35608843 (PubMed )
Supplement: iovs-63-5-28_s010.pdf
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