Associated Papers
Identification of a Fetal De Novo Splice Variant in ARCN1 Associated With Growth and Skeletal Abnormalities.
He W et al.
Maternal-fetal Medicine (wolters Kluwer Health, Inc.), 2025
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var
Expanding the phenotypic spectrum of ARCN1-related syndrome.
Ritter AL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Novel de novo ARCN1 intronic variant causes rhizomelic short stature with microretrognathia and developmental delay.
Tidwell T et al.
Cold Spring Harbor Molecular Case Studies, 2020
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