Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.I1392_V1393insFs
Back to variants list

ABCA4

NM_000350.3:p.I1392_V1393insFs

Associated Papers

VariantscanR: an R-package as a clinical tool for variant filtering of known phenotype-associated variants in domestic animals.

Boeykens F et al.

Bmc Bioinformatics, 2023

37528412 (PubMed )
Supplement: 12859_2023_5426_MOESM1_ESM.pdf

Abnormal Appearance of the Area Centralis in Labrador Retrievers With an ABCA4 Loss-of-function Mutation.

Ekesten B et al.

Translational Vision Science & Technology, 2022

Stargardt disease and progress in therapeutic strategies.

Huang D et al.

Ophthalmic Genetics, 2022

Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.

Cremers FPM et al.

Progress in Retinal and Eye Research, 2020

An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease.

Mäkeläinen S et al.

Plos Genetics, 2019

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."