Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.Q2243_V2244Splc
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ABCA4

NM_000350.3:p.Q2243_V2244Splc

Associated Papers

Natural History of Visual Dysfunction in ABCA4 Retinopathy and Its Genetic Correlates.

Pfau M et al.

American Journal of Ophthalmology, 2023

A pathogenic in-frame deletion-insertion variant in BEST1 phenocopies Stargardt disease.

Kolesnikova M et al.

Jci Insight, 2022

36264634 (PubMed )
Supplement: jciinsight-7-162687-s246.pdf

Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates.

Pfau M et al.

Jci Insight, 2022

35076026 (PubMed )
Supplement: jciinsight-7-155373-s142.pdf
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