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Mutation detection

Identification of Novel Mutations in HEXA Gene in Children Affected with Tay Sachs Disease from India

Mehul Mistri, Parag M. Tamhankar, [ ... ], Jayesh Sheth

CRISPR/Cas9-mediated targeted mutagenesis in grape

Ikuko Nakajima, Yusuke Ban, [ ... ], Masaki Endo

Familial Occurrence of Systemic Mast Cell Activation Disease

Gerhard J. Molderings, Britta Haenisch, [ ... ], Markus M. Nöthen

Genome-Wide Massively Parallel Sequencing of Formaldehyde Fixed-Paraffin Embedded (FFPE) Tumor Tissues for Copy-Number- and Mutation-Analysis

Michal R. Schweiger, Martin Kerick, [ ... ], Hans Lehrach

A Digital PCR-Based Method for Efficient and Highly Specific Screening of Genome Edited Cells

Scott D. Findlay, Krista M. Vincent, Jennifer R. Berman, Lynne-Marie Postovit

Investigation of mutations in the HBB gene using the 1,000 genomes database

Tânia Carlice-dos-Reis, Jaime Viana, [ ... ], Ândrea Ribeiro-dos-Santos

Multicolor Combinatorial Probe Coding for Real-Time PCR

Qiuying Huang, Linlin Zheng, [ ... ], Qingge Li

Multiplex Real-Time PCR Assays that Measure the Abundance of Extremely Rare Mutations Associated with Cancer

Diana Y. Vargas, Fred Russell Kramer, Sanjay Tyagi, Salvatore A. E. Marras

Statistical Guidance for Experimental Design and Data Analysis of Mutation Detection in Rare Monogenic Mendelian Diseases by Exome Sequencing

Degui Zhi, Rui Chen

DNA mutation motifs in the genes associated with inherited diseases

Michal Růžička, Petr Kulhánek, [ ... ], Kamila Réblová

Genetic Mutations Associated with Isoniazid Resistance in Mycobacterium tuberculosis: A Systematic Review

Marva Seifert, Donald Catanzaro, Antonino Catanzaro, Timothy C. Rodwell

Applying Physics-Based Scoring to Calculate Free Energies of Binding for Single Amino Acid Mutations in Protein-Protein Complexes

Hege Beard, Anuradha Cholleti, [ ... ], Kathryn A. Loving

Generation and Inheritance of Targeted Mutations in Potato (Solanum tuberosum L.) Using the CRISPR/Cas System

Nathaniel M. Butler, Paul A. Atkins, Daniel F. Voytas, David S. Douches

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