Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.V256V
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ABCA4

NM_000350.3:p.V256V

Associated Papers

Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases.

Surl D et al.

Jama Network Open, 2024

38819824 (PubMed )
Supplement: jamanetwopen-e2414198-s001.pdf

Generation of three isogenic control lines from patient-derived iPSCs carrying bi-allelic ABCA4 variants underlying Stargardt disease.

Karjosukarso DW et al.

Stem Cell Research, 2023

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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."