A Stop-gain Variant c.220C>T (p.(Gln74*)) in FLNB Segregates with Spondylocarpotarsal Synostosis Syndrome in a Consanguineous Family
Article in The Yale Journal of Biology and Medicine (September 2023)
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Article in The Yale Journal of Biology and Medicine (September 2023)
Article in Journal of Pediatric Genetics (December 2022)
Article in Genes (April 2021)