Concepedia

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

Anna Hackett, Patrick Tarpey, Andrea Licata, James J. Cox, Annabel Whibley, Jackie Boyle, Carolyn Rogers, John Grigg, M. W. Partington, Roger E. Stevenson,

European Journal of Human Genetics · 2009 · 131 citations · 38 references

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38

Maximum Entropy Modeling of Short Sequence Motifs with Applications to RNA Splicing Signals

G Yeo, Christopher B. Burge · Journal of Computational Biology · 2004 · 2.1K citations · Full text

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Tbr1 Regulates Differentiation of the Preplate and Layer 6

Robert F. Hevner, Limin Shi, Nick Justice et al. · Neuron · 2001 · 877 citations · Full text

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A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Patrick Tarpey, Raffaella Smith, Erin Pleasance et al. · Nature Genetics · 2009 · 617 citations · Full text

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A Tripartite Protein Complex with the Potential to Couple Synaptic Vesicle Exocytosis to Cell Adhesion in Brain

Stefan Butz, Masaya Okamoto, Thomas C. Südhof · Cell · 1998 · 557 citations · Full text

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Nuclear translocation and transcription regulation by the membrane-associated guanylate kinase CASK/LIN-2

Yi‐Ping Hsueh, Ting‐Fang Wang, Fu‐Chia Yang et al. · Nature · 2000 · 357 citations

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