Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.F3_V4insT
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ABCA4

NM_000350.3:p.F3_V4insT

Associated Papers

Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy.

Bauwens M et al.

Clinical 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."