Associated Papers
Comprehensive genetic screening for vascular Ehlers-Danlos syndrome through an amplification-based next-generation sequencing system.
Yamaguchi T et al.
American Journal of Medical Genetics. Part A, 2023
36189931 (PubMed )
Supplement: AJMG-191-37-s002.xlsx › S3_gnomAD_LoF
Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.
Najafi A et al.
Clinical Genetics, 2020
31506931 (PubMed )
Supplement: CGE-97-235-s002.xlsx › All_variants_annotated
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