Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCA4

Variant:p.S827_P828Fs

Back to variants list

ABCA4

NM_000350.3:p.S827_P828Fs

hg38:chr1:94055215 GGA>AG

Associated Papers

Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry.

Lopez-de la Rosa A et al.

Orphanet Journal of Rare Diseases, 2024

38872169 (PubMed )

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."