Associated Papers
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 › S1_ACMG_Categorisation.xlsx › Overview_S1
Next generation sequencing in the diagnosis of Stargardt's disease.
Jimenez-Rolando B et al.
Archivos De La Sociedad Espanola De Oftalmologia, 2018
Correction: Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis.
Corton M et al.
Plos One, 2016
Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.
Corton M et al.
Plos One, 2013
Select a paper to view details