Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype von Driver, Sean G W, Jackson, Meremaihi R, Richter, Konrad, Tomlinson, Paul, Brockway, Ben, Halliday, Benjamin J, Markie, David M, Robertson, Stephen P, Wade, Emma M

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Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity von Blakes, Alexander J M, Gaul, Emily, Lam, Wayne, Shannon, Nora, Knapp, Karen M, Bicknell, Louise S, Jackson, Meremaihi R, Wade, Emma M, Robertson, Stephen, White, Susan M, Heller, Raoul, Chase, Andrew, Baralle, Diana, Douglas, Andrew G L

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