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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCA4

Variant:p.N413_A414Splc

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ABCA4

NM_000350.3:p.N413_A414Splc

hg38:chr1:94079251 A>T

Associated Papers

Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles.

Smaragda K et al.

Journal of Ophthalmology, 2018

29854428 (PubMed )

Supplement: 5706142.f1.docx

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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."