Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.F2188C
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ABCA4

NM_000350.3:p.F2188C

Associated Papers

Targeted next-generation sequencing identifies ABCA4 mutations in Chinese families with childhood-onset and adult-onset Stargardt disease.

Qu LH et al.

Bioscience Reports, 2021

Clinical and genetic characteristics of Stargardt disease in a large Western China cohort: Report 1.

Liu X et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020

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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."