Associated Papers
Synonymous and non-synonymous variants at splice junctions can disrupt splicing and are frequently linked to disease associated loss of function genes.
Srinivasan S et al.
Bmc Genomics, 2025
41436921 (PubMed )
Supplement: 12864_2025_12466_MOESM15_ESM.pdf
Rare vascular complications in classical Ehlers-Danlos syndromes.
Chong CWC et al.
Bmj Case Reports, 2025
[Developmental of a Support System for the Genetic Diagnosis and Counseling of Rare Disease].
Kim GH et al.
Jugan Geon-gang Gwa Jilbyeong, 2024
Performance evaluation of differential splicing analysis methods and splicing analytics platform construction.
Li K et al.
Nucleic Acids Research, 2022
35993808 (PubMed )
Supplement: gkac686_supplemental_files.zip › Table_S4_The_positive_and_negative_splicing_variants_benchmarker.xlsx › ROC
Clinical and genetic analysis of classical Ehlers-Danlos syndrome patient caused by synonymous mutation in COL5A2.
Ma N et al.
Molecular Genetics & Genomic Medicine, 2021
Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives.
Ritelli M et al.
Orphanet Journal of Rare Diseases, 2020
32736638 (PubMed )
Supplement: 13023_2020_1470_MOESM1_ESM.xls › 2017_Criteria
A case of Ehlers-Danlos syndrome presenting with widened atrophic scars of forehead, elbow, knee, and pretibial area: A case report.
Xu X et al.
Medicine, 2019
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