1 | DUPXQ13, FTX, NEXMIF, RLIM, SLC16A2
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| RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features
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| Palmer EE, Carroll R, Shaw M, Kumar R, Minoche AE, Leffler M, Murray L, Macintosh R, Wright D, Troedson C, McKenzie F, Townshend S, Ward M, Nawaz U, Ravine A, Runke CK, Thorland EC, Hummel M, Foulds N, Pichon O, Isidor B, Le Caignec C, Demeer B, Andrieux J, Albarazi SH, Bye A, Sachdev R, Kirk EP, Cowley MJ, Field M, Gecz J.
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| Am J Hum Genet. Oct 28:S0002-9297(20)30363-3. doi: 10.1016/j.ajhg.2020.10.005. Epub ahead of print. 2020
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2 | DUPXQ13, FTX, NEXMIF, RLIM, SLC16A2
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| RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features. 2020 Dec 3;107(6):1157-1169. doi: 10.1016/j.ajhg.2020.10.005. Epub 2020 Nov 6. PMID:
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| Palmer EE, Carroll R, Shaw M, Kumar R, Minoche AE, Leffler M, Murray L, Macintosh R, Wright D, Troedson C, McKenzie F, Townshend S, Ward M, Nawaz U, Ravine A, Runke CK, Thorland EC, Hummel M, Foulds N, Pichon O, Isidor B, Le Caignec C, Demeer B, Andrieux J, Albarazi SH, Bye A, Sachdev R, Kirk EP, Cowley MJ, Field M, Gecz J
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| Am J Hum Genet. Dec 3;107(6):1157-1169. doi: 10.1016/j.ajhg.2020.10.005. Epub 2020 Nov 6. 2020
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3 | FTX
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| Familial thrombocytosis as a recessive, possibly X-linked trait in an Arab family.
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| Stuhrmann M, Bashawri L, Ahmed MA, Al-Awamy BH, Kuhnau W, Schmidtke J, El-Harith EA.
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| Br J Haematol 112(3):616-20. 2001
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