Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
FANCA c.3624C>T (p.Ser1208=) is a hypomorphic splice variant associated with delayed onset of Fanconi anemia.
Ramanagoudr-Bhojappa R et al.
Blood Advances, 2024
Development of Engineered-U1 snRNA Therapies: Current Status.
Gonçalves M et al.
International Journal of Molecular Sciences, 2023
Ranking noncanonical 5' splice site usage by genome-wide RNA-seq analysis and splicing reporter assays.
Erkelenz S et al.
Genome Research, 2018
Genetic counseling for Fanconi anemia: crosslinking disciplines.
Zierhut HA et al.
Journal of Genetic Counseling, 2014
Correct mRNA processing at a mutant TT splice donor in FANCC ameliorates the clinical phenotype in patients and is enhanced by delivery of suppressor U1 snRNAs.
Hartmann L et al.
American Journal of Human Genetics, 2010
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