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Missense mutation

Deriving a Mutation Index of Carcinogenicity Using Protein Structure and Protein Interfaces

Octavio Espinosa, Konstantinos Mitsopoulos, Jarle Hakas, Frances Pearl, Marketa Zvelebil

published 15 Jan 2014

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Role of the DLGAP2 Gene Encoding the SAP90/PSD-95-Associated Protein 2 in Schizophrenia

Jun-Ming Li, Chao-Lin Lu, Min-Chih Cheng, Sy-Ueng Luu, Shih-Hsin Hsu, Tsung-Ming Hu, Hsin-Yao Tsai, Chia-Hsiang Chen

published 08 Jan 2014

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Comparative Study of Structural Changes Caused by Different Substitutions at the Same Residue on α-Galactosidase A

Seiji Saito, Kazuki Ohno, Hitoshi Sakuraba

published 26 Dec 2013

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Observational Cohort Study of Ventricular Arrhythmia in Adults with Marfan Syndrome Caused by FBN1 Mutations

Ali Aydin, Baran A. Adsay, Sara Sheikhzadeh, Britta Keyser, Meike Rybczynski, Claudia Sondermann, Christian Detter, Daniel Steven, Peter N. Robinson, Jürgen Berger, Jörg Schmidtke, Stefan Blankenberg, Stephan Willems, Yskert von Kodolitsch, Boris A. Hoffmann

published 13 Dec 2013

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CLCN1 Mutations in Czech Patients with Myotonia Congenita, In Silico Analysis of Novel and Known Mutations in the Human Dimeric Skeletal Muscle Chloride Channel

Daniela Skálová, Jana Zídková, Stanislav Voháňka, Radim Mazanec, Zuzana Mušová, Petr Vondráček, Lenka Mrázová, Josef Kraus, Kamila Réblová, Lenka Fajkusová

published 11 Dec 2013

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Novel HCN2 Mutation Contributes to Febrile Seizures by Shifting the Channel's Kinetics in a Temperature-Dependent Manner

Yuki Nakamura, Xiuyu Shi, Tomohiro Numata, Yasuo Mori, Ryuji Inoue, Christoph Lossin, Tallie Z. Baram, Shinichi Hirose

published 04 Dec 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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CanDrA: Cancer-Specific Driver Missense Mutation Annotation with Optimized Features

Yong Mao, Han Chen, Han Liang, Funda Meric-Bernstam, Gordon B. Mills, Ken Chen

published 30 Oct 2013

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PTCH1 Gene Mutations in Keratocystic Odontogenic Tumors: A Study of 43 Chinese Patients and a Systematic Review

Yan-Yan Guo, Jian-Yun Zhang, Xue-Fen Li, Hai-Yan Luo, Feng Chen, Tie-Jun Li

published 21 Oct 2013

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Differential Effects of Human L1CAM Mutations on Complementing Guidance and Synaptic Defects in Drosophila melanogaster

Sirisha Kudumala, Julie Freund, Michael Hortsch, Tanja A. Godenschwege

published 14 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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Novel NR5A1 Missense Mutation in Premature Ovarian Failure: Detection in Han Chinese Indicates Causation in Different Ethnic Groups

Xue Jiao, Yingying Qin, Guangyu Li, Shidou Zhao, Li You, Jinlong Ma, Joe Leigh Simpson, Zi-Jiang Chen

published 20 Sep 2013

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