Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.V256_L257Splc
Back to variants list

ABCA4

NM_000350.3:p.V256_L257Splc

Associated Papers

Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.

Tang R et al.

Advances in Bioinformatics, 2016

27313609 (PubMed )
Supplement: 5614058.f1.pdf

Differential occurrence of mutations causative of eye diseases in the Chinese population.

Pang CP et al.

Human Mutation, 2002

ABCA4 sequence variants in Chinese patients with age-related macular degeneration or Stargardt's disease.

Baum L et al.

Ophthalmologica. Journal International D'ophtalmologie. International Journal of Ophthalmology. Zeitschrift Fur Augenheilkunde, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."