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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCA4

Variant:p.L1125_L1126del2

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ABCA4

NM_000350.3:p.L1125_L1126del2

hg38:chr1:94041352 CAAGGAG>C

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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."