Varaico: Literature-Extracted Genetic Variants

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

ABCA4

NM_000350.3:p.V256_L257Splc

Associated Papers

18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.

Kiel C et al.

Scientific Reports, 2024

39462066 (PubMed )
Supplement: 41598_2024_77014_MOESM2_ESM.xlsx › unsolved_patients

Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework.

Cornelis SS et al.

Human Mutation, 2023

40225145 (PubMed )
Supplement: 6815504.f1.zip › S10_PS3_BS3.xlsx › Functional_data_overview

Benchmarking deep learning splice prediction tools using functional splice assays.

Riepe TV et al.

Human Mutation, 2021

Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease.

Khan M et al.

Human Mutation, 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."