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1. WDR45B‐related intellectual disability, spastic quadriplegia, epilepsy, and cerebral (...)

   http://duke.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV3NTtwwELZQpaJe2gJVu-2CTMWhB9Jm4zhxYIUEgQVVQghEVfUU-ZdFWu2m-3PYG4-AeESehLGdBFYtUtVbpExkx56xP49nvkFoK41UhymqAkY0DWKY5YCZkASpVHEiRGbCyCUns--_ovML1suX0G6dC-P5IRqHm7UMt15bA-di8sTI5ZW2pYyp5QK1rE0WHJ3lzSpMUprVVdQAApGKVchG8TRfLu5FfwDMRbzqNpzeGx8Y4qqS2Wjrrz7axPsdFsKwaz7H__yrt-h1BUnxvtehFbSkh6vopS9SOV9Fy6fV9fsauvt5eBHTg_ubW5cCoxW-fpKFglXF1zudb-Nufw_WKksCjX_PuBpbf_7VNe9-6-9tY11C38oJiPGhwlKP7e31APfn5ah0aZ07eB9LG7oLOjicYke6qR7Dm0C2Zlp4h370ji7zk6Aq6hDIuJPFgZEpTXjIJQBJTSMBkIcbmiiRmogSwaXOSEY4VakhWvM0MwnTRMEGK-BoKST5gDCPFKFM8My6YAQLuUlMbJigxp3fRAt9qee1kBXVua24MSjqIw8Mc-GGuYU-N6Kl5_f4m1C7Vo6iMvFJ0YF9HBZnQFgttNm8BuO0Ny58qEczkIHTrIXccaeF3nulalqJGAUlJRQ66xTi-eaL_PjIPXz8d9FP6BVAO-bjy9voxXQ80-u-4MWGM5QHPIAY-A

   by Hashem, M.; Suleiman, J.; Shamseldin, H.E.; Alkuraya, F.S.; El‐Hattab, A.W. and Allingham‐Hawkins, D.

   Clinical Genetics, Volume 93, Issue 2, pp. 360 - 364

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2. Dominant-Negative Mutations in α-II Spectrin Cause West Syndrome with Severe Cerebral (...)

   http://duke.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1Lj9MwELa2KyEhIbQ8BOFR-cCNdZvETuJIq5UgpdpFWsRSOHCynNhpu2rTqo9D_wt_gj_Cb2L8SKFotQcukfKYJM6MMzP2528QepPFKuIqUYRTnRAGWia8DinJKsXSsszrMLaLk_nH7_H1Fz4sjlDSroWxoP2qnPaa2bzXTCcWW7mcV_0WJ9b_fFVQU_U74f0O6kAC06bofuog4iFtY17w_ZlfKeNAXfJmMvZ4LtaD6MdwAUOMTJlxT7c7pgdLuYbPVbs6F7cFov_iKR2S0jqo4Ql66CNL_M614BE60s1jdM_Vmtw9QT8GC4d6IZ_02LJ946utm4df42mDf_0kl5fYlKPfrGC3kNu1xqbuDB55UgNsxmzxSIPxa1zABhLtGb7YLRfznVnVbu91is8m5yNoDLwFvt5KtTIj-eOpPOtPzk-xbBT-C6cE8gM9k7un6Nvww9figvjSDKRinG1IGcVVyrMKvq9SWaaYrlMlucxVlEOAlao81azODZ8gpGA5HAdLSRRlXEY6DEv6HGEZK5rwUuZmIKXkoazTmtW8TGqbhZUBilqFiMoTlpu6GTPRItNuhNGnMPoUIROgzwC93cssHV3HnVcnrZ6FDzhcICHAn9wp1z0wiv2j4ji3vKoBwq2VCOiuZg5GNnqxXYuMUvir5iwM0DNnNH-EvSEGKDswp_0Fhgn88Ax0EMsI7jvEi_-WfInuO1hESqLoFTrerLb6tauP0UWd4eB913ay32kJLYc

   by Miyata, Rie; Mizuguchi, Takeshi; Kato, Mitsuhiro; Saitoh, Shinji; Saitsu, Hirotomo; Ogata, Kazuhiro; Kumada, Tatsuro; Nishimura, Akira; Goto, Tomohide; Yamagata, Takanori; et al.

   American Journal Of Human Genetics, Volume 86, Issue 6, pp. 881 - 891

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3. PAK1 c.1409 T > a (p. Leu470Gln) de novo variant affects the protein kinase domain, leading to (...)

   http://duke.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV3NjtMwELYQEogLPwuC8qdB4gBSk-Y_DlpVKhVdtLASoOWwp2gS29ssbRK2m5V648pb8Cw8A0_AkzC207JIXOCURHYiRzP2fJ4Zf8PY0zQQPhexcHgoYyciKTtceaGTliJKiiJTXmAOJ_P9o-D9Bz6b9g43fRbG8kNsHW56Zpj1Wk9wLFaj36SheLI8dtFNyADqw-R-mGo1f3m0DSKQJpvacppkzIloJ9TnvdPro4sv_w1bXoCqYW9rZjdYtRmlSbR2baKJdTn8kYG9oXL8_x-6ya73gBQmVoNusUuy3mFXbInK9Q67etAH32-zH-8mb3woXU1e9fPL18Pv38Z0QXjWuvBWdlHq7S3q5yAk1M15A-e0CyexAdqMESCkCYYVoqrhU1WT9QTRLLGqh7Cwmfxw1oBsaeztaj2EJZbauLZzXNDT7nxMa58mlYbPHYpTHR84rnB3NB8PAWsB87XYdO9WL2Cqv28DIqbZHtGBRplxLLZk0nfYx9mrw-lrpy8K4bSEzsiixooT5pKEpDASSZnwrEQdHlYlV6kvaH3iZSSUpzATSZqWGFIzIufSl0jr2z0GGIgw5gVm2oVTcA9VoiLFi1iZ_V8xYE82GpHTbNMhFKxl063yIOWENyOCnQN216pK3lpakDxMMo_gbjpgjhHztsEyQwe5FnCOuRFwPtk_2JuY2_v_2P8Bu6Zr3tt8tYfs8tlpJx_ZWhaPzQT4BWQUDdg

   by Craigen, William J.; Swann, John W.; Seto, Elaine S.; Lerma, Vanesa C.; Michener, Sydney L.; Diaz‐Medina, Gloria E.; Amaya, Sabrina I.; Corriveau, Melina L.; Schultz, Rebecca J.; Chao, Hsiao‐Tuan; et al.

   American Journal Of Medical Genetics. Part A, Volume 191, Issue 6, pp. 1619 - 1625

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