Associated Papers
Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function.
Kaltak M et al.
Journal of Translational Medicine, 2023
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Supplement: 12967_2023_4406_MOESM6_ESM.xlsx › Table_S7
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
Test-Retest Variability of Functional and Structural Parameters in Patients with Stargardt Disease Participating in the SAR422459 Gene Therapy Trial.
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Translational Vision Science & Technology, 2016
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Supplement: i2164-2591-5-5-10-s01.xlsx › Sheet1
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