Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.P1510_P1511insFs
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ABCA4

NM_000350.3:p.P1510_P1511insFs

Associated Papers

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

Functional Relevance and Structural Correlates of Near Infrared and Short Wavelength Fundus Autofluorescence Imaging in ABCA4-Related Retinopathy.

Müller PL et al.

Translational Vision Science & Technology, 2019

31879568 (PubMed )
Supplement: tvst-08-06-20_s02.pdf

Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.

Fujinami K et al.

The British Journal of Ophthalmology, 2019

29925512 (PubMed )
Supplement: NIHMS1029613-supplement-Supplemental_Table_2.pdf

Inner and outer retinal changes in retinal degenerations associated with ABCA4 mutations.

Huang WC et al.

Investigative Ophthalmology & Visual Science, 2014

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