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endingPage 2407
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publicationName Genetics in medicine : official journal of the American College of Medical Genetics
startingPage 2399
bibliographicCitation Oh RY, Deshwar AR, Marwaha A, Sabha N, Tropak M, Hou H, Yuki KE, Wilson MD, Rump P, Lunsing R, Elserafy N, Chung CWT, Hewson S, Klein-Rodewald T, Calzada-Wack J, Sanz-Moreno A, Kraiger M, Marschall S, Fuchs H, Gailus-Durner V, Hrabe de Angelis M, Dowling J, Schulze A. Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome. Genet Med. 2022 Nov;24(11):2399–407. doi: 10.1016/j.gim.2022.07.024. PMID: 36083289.
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language English
source https://pubmed.ncbi.nlm.nih.gov/
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title Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome
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