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Missense mutation

CLMP Is Essential for Intestinal Development, but Does Not Play a Key Role in Cellular Processes Involved in Intestinal Epithelial Development

Christine S. van der Werf, Nai-Hua Hsiao, Siobhan Conroy, Joana Paredes, Ana S. Ribeiro, Yunia Sribudiani, Raquel Seruca, Robert M. W. Hofstra, Helga Westers, Sven C. D. van IJzendoorn

published 27 Feb 2013

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Population-Based Estimate of Prostate Cancer Risk for Carriers of the HOXB13 Missense Mutation G84E

Robert J. MacInnis, Gianluca Severi, Laura Baglietto, James G. Dowty, Mark A. Jenkins, Melissa C. Southey, John L. Hopper, Graham G. Giles

published 15 Feb 2013

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Only Missense Mutations Affecting the DNA Binding Domain of P53 Influence Outcomes in Patients with Breast Carcinoma

Frédérique Végran, Magali Rebucci, Sandy Chevrier, Muriel Cadouot, Romain Boidot, Sarab Lizard-Nacol

published 24 Jan 2013

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Novel PAX9 and COL1A2 Missense Mutations Causing Tooth Agenesis and OI/DGI without Skeletal Abnormalities

Shih-Kai Wang, Hui-Chen Chan, Igor Makovey, James P. Simmer, Jan C-C. Hu

published 05 Dec 2012

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Dysferlin-Peptides Reallocate Mutated Dysferlin Thereby Restoring Function

Verena Schoewel, Andreas Marg, Severine Kunz, Tim Overkamp, Romy Siegert Carrazedo, Ute Zacharias, Peter T. Daniel, Simone Spuler

published 20 Nov 2012

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Genetic Overlap between Apparently Sporadic Motor Neuron Diseases

Marka van Blitterswijk, Lotte Vlam, Michael A. van Es, W-Ludo van der Pol, Eric A. M. Hennekam, Dennis Dooijes, Helenius J. Schelhaas, Anneke J. van der Kooi, Marianne de Visser, Jan H. Veldink, Leonard H. van den Berg

published 14 Nov 2012

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Functional Effects of Different Medium-Chain Acyl-CoA Dehydrogenase Genotypes and Identification of Asymptomatic Variants

Marga Sturm, Diran Herebian, Martina Mueller, Maurice D. Laryea, Ute Spiekerkoetter

published 17 Sep 2012

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Origins of Albino and Hooded Rats: Implications from Molecular Genetic Analysis across Modern Laboratory Rat Strains

Takashi Kuramoto, Satoshi Nakanishi, Masako Ochiai, Hitoshi Nakagama, Birger Voigt, Tadao Serikawa

published 16 Aug 2012

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AvrRpm1 Missense Mutations Weakly Activate RPS2-Mediated Immune Response in Arabidopsis thaliana

Karen A. Cherkis, Brenda R. S. Temple, Eui-Hwan Chung, John Sondek, Jeffery L. Dangl

published 06 Aug 2012

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PRRT2 Mutations in Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions in a Taiwanese Cohort

Yi-Chung Lee, Ming-Jen Lee, Hsiang-Yu Yu, Chien Chen, Chang-Hung Hsu, Kon-Ping Lin, Kwong-Kum Liao, Ming-Hong Chang, Yi-Chu Liao, Bing-Wen Soong

published 01 Aug 2012

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Identification of SCN1A and PCDH19 Mutations in Chinese Children with Dravet Syndrome

Anna Ka-Yee Kwong, Cheuk-Wing Fung, Siu-Yuen Chan, Virginia Chun-Nei Wong

published 25 Jul 2012

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Common Pathogenic Effects of Missense Mutations in the P-Type ATPase ATP13A2 (PARK9) Associated with Early-Onset Parkinsonism

Agata Podhajska, Alessandra Musso, Alzbeta Trancikova, Klodjan Stafa, Roger Moser, Sarah Sonnay, Liliane Glauser, Darren J. Moore

published 29 Jun 2012

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Novel and Recurrent Mutations of WISP3 in Two Chinese Families with Progressive Pseudorheumatoid Dysplasia

Jing Sun, Weibo Xia, Shuli He, Zhen Zhao, Min Nie, Mei Li, Yan Jiang, Xiaoping Xing, Ou Wang, Xunwu Meng, Xueying Zhou

published 07 Jun 2012

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