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Novel characterization of CASK variant c.1963 A>G (p.Asn655Asp) through whole-exome sequencing in a monochorionic diamniotic twin fetus with significant brain anomalies: A case report.
Keller NA, Bracero LA, Kouba I, Steinberg A, Muscat J, Bergman D. Keller NA, et al. Among authors: bracero la. Case Rep Womens Health. 2024 Jan 17;41:e00583. doi: 10.1016/j.crwh.2024.e00583. eCollection 2024 Mar. Case Rep Womens Health. 2024. PMID: 38440102 Free PMC article.
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