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
Host genetic susceptibility underlying SARS-CoV-2-associated Multisystem Inflammatory Syndrome in Brazilian Children.
Santos-Rebouças CB et al.
Molecular Medicine (cambridge, Mass.), 2022
The Scope of Pathogenic ABCA4 Mutations Targetable by CRISPR DNA Base Editing Systems-A Systematic Review.
Piotter E et al.
Frontiers in Genetics, 2021
35154257 (PubMed )
Supplement: DataSheet1.xlsx › 5._Gnomad-all_variants
Distinct genomic profiles of gestational choriocarcinoma, a unique cancer of pregnant tissues.
Jung SH et al.
Experimental & Molecular Medicine, 2020
33319857 (PubMed )
Supplement: 12276_2020_544_MOESM1_ESM.pdf
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