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Missense mutation

Predicting mutations deleterious to function in beta-lactamase TEM1 using MM-GBSA

Christopher Negron, David A. Pearlman, Guillermo del Angel

published 19 Mar 2019

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In vivo, in vitro and in silico correlations of four de novo SCN1A missense mutations

Andreea Nissenkorn, Yael Almog, Inbar Adler, Mary Safrin, Marina Brusel, Milit Marom, Shayel Bercovich, Daniel Yakubovich, Michal Tzadok, Bruria Ben-Zeev, Moran Rubinstein

published 08 Feb 2019

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Analysis of antifungal resistance genes in Candida albicans and Candida glabrata using next generation sequencing

Kathrin Spettel, Wolfgang Barousch, Athanasios Makristathis, Iris Zeller, Marion Nehr, Brigitte Selitsch, Michaela Lackner, Peter-Michael Rath, Joerg Steinmann, Birgit Willinger

published 10 Jan 2019

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Mutation of a serine near the catalytic site of the choline acetyltransferase a gene almost completely abolishes motility of the zebrafish embryo

Swarnima Joshi, Sanamjeet Virdi, Christelle Etard, Robert Geisler, Uwe Strähle

published 20 Nov 2018

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New cases of Glucose-6-Phosphate Dehydrogenase deficiency in Pulmonary Arterial Hypertension

Sergey Kurdyukov, Cody A. Eccles, Ankit A. Desai, Manuel Gonzalez-Garay, Jason X.-J. Yuan, Joe G. N. Garcia, Olga Rafikova, Ruslan Rafikov

published 30 Aug 2018

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ENTPRISE-X: Predicting disease-associated frameshift and nonsense mutations

Hongyi Zhou, Mu Gao, Jeffrey Skolnick

published 03 May 2018

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Different outcome of sarcoglycan missense mutation between human and mouse

Sara F. Henriques, Cécile Patissier, Nathalie Bourg, Chiara Fecchio, Doriana Sandona, Justine Marsolier, Isabelle Richard

published 23 Jan 2018

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A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux

Amelie T. van der Ven, Birgit Kobbe, Stefan Kohl, Shirlee Shril, Hans-Martin Pogoda, Thomas Imhof, Hadas Ityel, Asaf Vivante, Jing Chen, Daw-Yang Hwang, Dervla M. Connaughton, Nina Mann, Eugen Widmeier, Mary Taglienti, Johanna Magdalena Schmidt, Makiko Nakayama, Prabha Senguttuvan, Selvin Kumar, Velibor Tasic, Elijah O. Kehinde, Shrikant M. Mane, Richard P. Lifton, Neveen Soliman, Weining Lu, Stuart B. Bauer, Matthias Hammerschmidt, Raimund Wagener, Friedhelm Hildebrandt

published 19 Jan 2018

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Global computational mutagenesis provides a critical stability framework in protein structures

Caitlyn L. McCafferty, Yuri V. Sergeev

published 07 Dec 2017

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Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias

Cheng-Tsung Hsiao, Yo-Tsen Liu, Yi-Chu Liao, Ting-Yi Hsu, Yi-Chung Lee, Bing-Wen Soong

published 29 Nov 2017

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The effect of the pathological V72I, D109N and T190M missense mutations on the molecular structure of α-dystroglycan

Sonia Covaceuszach, Manuela Bozzi, Maria Giulia Bigotti, Francesca Sciandra, Petr V. Konarev, Andrea Brancaccio, Alberto Cassetta

published 16 Oct 2017

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SWI/SNF Infobase—An exclusive information portal for SWI/SNF remodeling complex subunits

Udayakumar Mani, Alagu Sankareswaran S., Arun Goutham R. N., Suma Mohan S.

published 29 Sep 2017

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Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia

Beata S. Lipska-Ziętkiewicz, Jutta Gellermann, Olivia Boyer, Olivier Gribouval, Szymon Ziętkiewicz, Jameela A. Kari, Mohamed A. Shalaby, Fatih Ozaltin, Jiri Dusek, Anette Melk, Aysun K. Bayazit, Laura Massella, Lidia Hyla-Klekot, Sandra Habbig, Astrid Godron, Maria Szczepańska, Beata Bieniaś, Dorota Drożdż, Rasha Odeh, Wioletta Jarmużek, Katarzyna Zachwieja, Agnes Trautmann, Corinne Antignac, Franz Schaefer, on behalf of The PodoNet Consortium

published 10 Aug 2017

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