Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.L17insFs
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ABCA4

NM_000350.3:p.L17insFs

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

Mutational scanning of the ABCR gene with double-gradient denaturing-gradient gel electrophoresis (DG-DGGE) in Italian Stargardt disease patients.

Fumagalli A et al.

Human Genetics, 2001

Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies.

Paloma E et al.

Human Mutation, 2001

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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."