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
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
The presence of multiple variants affects the clinical phenotype and prognosis in left ventricular noncompaction after surgery.
Hirono K et al.
The Journal of Thoracic and Cardiovascular Surgery, 2018
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