Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.E1271_I1272Splc
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ABCA4

NM_000350.3:p.E1271_I1272Splc

Associated Papers

Genetic Correlates of Phenotypic Variability in c.5882G>A p.(Gly1961Glu)-Associated Stargardt Disease.

Pas JAAH et al.

Investigative Ophthalmology & Visual Science, 2026

41677386 (PubMed )
Supplement: iovs-67-2-32_s001.pdf

Prediction of Function in ABCA4-Related Retinopathy Using Ensemble Machine Learning.

Müller PL et al.

Journal of Clinical Medicine, 2020

32751377 (PubMed )
Supplement: jcm-09-02428-s001.zip › Supplementary_Table_S1_New.pdf
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