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Frameshift mutation

Identification and Functional Characterization of Three NoLS (Nucleolar Localisation Signals) Mutations of the CDC73 Gene

Valerio Pazienza, Annamaria la Torre, Filomena Baorda, Michela Alfarano, Massimiliano Chetta, Lucia Anna Muscarella, Claudia Battista, Massimiliano Copetti, Dieter Kotzot, Klaus Kapelari, Dalia Al-Abdulrazzaq, Kusiel Perlman, Etienne Sochett, David E. C. Cole, Fabio Pellegrini, Lucie Canaff, Geoffrey N. Hendy, Leonardo D’Agruma, Leopoldo Zelante, Massimo Carella, Alfredo Scillitani, Vito Guarnieri

published 05 Dec 2013

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The Genetic Basis of a Rare Flower Color Polymorphism in Mimulus lewisii Provides Insight into the Repeatability of Evolution

Carrie A. Wu, Matthew A. Streisfeld, Laura I. Nutter, Kaitlyn A. Cross

published 03 Dec 2013

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Functional Characterization of a Novel Frameshift Mutation in the C-terminus of the Nav1.5 Channel Underlying a Brugada Syndrome with Variable Expression in a Spanish Family

Pablo Dolz-Gaitón, Mercedes Núñez, Lucía Núñez, Adriana Barana, Irene Amorós, Marcos Matamoros, Marta Pérez-Hernández, Marta González de la Fuente, Miguel Álvarez-López, Rosa Macías-Ruiz, Luis Tercedor-Sánchez, Juan Jiménez-Jáimez, Eva Delpón, Ricardo Caballero, Juan Tamargo

published 25 Nov 2013

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MetAmyl: A METa-Predictor for AMYLoid Proteins

Mathieu Emily, Anthony Talvas, Christian Delamarche

published 19 Nov 2013

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SNP Linkage Analysis and Whole Exome Sequencing Identify a Novel POU4F3 Mutation in Autosomal Dominant Late-Onset Nonsyndromic Hearing Loss (DFNA15)

Hee-Jin Kim, Hong-Hee Won, Kyoung-Jin Park, Sung Hwa Hong, Chang-Seok Ki, Sang Sun Cho, Hanka Venselaar, Gert Vriend, Jong-Won Kim

published 18 Nov 2013

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Spectrum of EGFR Gene Copy Number Changes and KRAS Gene Mutation Status in Korean Triple Negative Breast Cancer Patients

Yoonjung Kim, Juwon Kim, Hy-De Lee, Joon Jeong, Woochang Lee, Kyung-A Lee

published 30 Oct 2013

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Massively Parallel DNA Sequencing Successfully Identifies New Causative Mutations in Deafness Genes in Patients with Cochlear Implantation and EAS

Maiko Miyagawa, Shin-ya Nishio, Takuo Ikeda, Kunihiro Fukushima, Shin-ichi Usami

published 09 Oct 2013

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Novel CIC Point Mutations and an Exon-Spanning, Homozygous Deletion Identified in Oligodendroglial Tumors by a Comprehensive Genomic Approach Including Transcriptome Sequencing

Sophie Eisenreich, Khalil Abou-El-Ardat, Karol Szafranski, Jaime A. Campos Valenzuela, Andreas Rump, Janice M. Nigro, Rolf Bjerkvig, Eva-Maria Gerlach, Karl Hackmann, Evelin Schröck, Dietmar Krex, Lars Kaderali, Gabriele Schackert, Matthias Platzer, Barbara Klink

published 27 Sep 2013

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Heterozygous and Homozygous JAK2^V617F States Modeled by Induced Pluripotent Stem Cells from Myeloproliferative Neoplasm Patients

Joseph Saliba, Sofiane Hamidi, Gaëlle Lenglet, Thierry Langlois, Jingkui Yin, Xénia Cabagnols, Lise Secardin, Céline Legrand, Anne Galy, Paule Opolon, Baya Benyahia, Eric Solary, Olivier A. Bernard, Longyun Chen, Najet Debili, Hana Raslova, Françoise Norol, William Vainchenker, Isabelle Plo, Antonio Di Stefano

published 16 Sep 2013

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RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy

Dennis Lal, Eva M. Reinthaler, Janine Altmüller, Mohammad R. Toliat, Holger Thiele, Peter Nürnberg, Holger Lerche, Andreas Hahn, Rikke S. Møller, Hiltrud Muhle, Thomas Sander, Fritz Zimprich, Bernd A. Neubauer

published 06 Sep 2013

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Exome Sequencing and Functional Analysis Identifies a Novel Mutation in EXT1 Gene That Causes Multiple Osteochondromas

Feng Zhang, Jinlong Liang, Xiong Guo, Yingang Zhang, Yan Wen, Qiang Li, Zengtie Zhang, Weijuan Ma, Lanlan Dai, Xuanzhu Liu, Ling Yang, Jun Wang

published 29 Aug 2013

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A CNGB1 Frameshift Mutation in Papillon and Phalène Dogs with Progressive Retinal Atrophy

Saija J. Ahonen, Meharji Arumilli, Hannes Lohi

published 28 Aug 2013

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CCDC65 Mutation Causes Primary Ciliary Dyskinesia with Normal Ultrastructure and Hyperkinetic Cilia

Amjad Horani, Steven L. Brody, Thomas W. Ferkol, David Shoseyov, Mollie G. Wasserman, Asaf Ta-shma, Kate S. Wilson, Philip V. Bayly, Israel Amirav, Malena Cohen-Cymberknoh, Susan K. Dutcher, Orly Elpeleg, Eitan Kerem

published 26 Aug 2013

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