Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.D2102G
Back to variants list

ABCA4

NM_000350.3:p.D2102G

Associated Papers

Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.

Lin S et al.

Ophthalmology. Retina, 2024

38219857 (PubMed )
Supplement: mmc1.pdf

Prognostication in Stargardt Disease Using Fundus Autofluorescence: Improving Patient Care.

Daich Varela M et al.

Ophthalmology, 2023

37331482 (PubMed )
Supplement: mmc1.pdf

Phenotyping of ABCA4 Retinopathy by Machine Learning Analysis of Full-Field Electroretinography.

Glinton SL et al.

Translational Vision Science & Technology, 2022

36178783 (PubMed )
Supplement: tvst-11-9-34_s002.pdf

Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.

Roberts L et al.

Investigative Ophthalmology & Visual Science, 2016

27898983 (PubMed )
Supplement: iovs-57-14-17_s03.xlsx › 226RetnetDATA2P6M6A0ORout
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."