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Substitution mutation

Screen for IDH1, IDH2, IDH3, D2HGDH and L2HGDH Mutations in Glioblastoma

Daniel Krell, Mawuelikem Assoku, [ ... ], Chiara Bardella

Engineering of Insulin Receptor Isoform-Selective Insulin Analogues

Tine Glendorf, Carsten E. Stidsen, [ ... ], Thomas Kjeldsen

Variation in NOD2 Augments Th2- and Th17 Responses to Myelin Basic Protein in Multiple Sclerosis

Chris Juul Hedegaard, Christian Enevold, [ ... ], Claus Henrik Nielsen

Detection of Variants in 15 Genes in 87 Unrelated Chinese Patients with Leber Congenital Amaurosis

Lin Li, Xueshan Xiao, [ ... ], J. Fielding Hejtmancik

An ENU-Mutagenesis Screen in the Mouse: Identification of Novel Developmental Gene Functions

Carolien Wansleeben, Léon van Gurp, [ ... ], Frits Meijlink

Dynamic Diagnosis of Familial Prion Diseases Supports the β2-α2 Loop as a Universal Interference Target

Massimiliano Meli, Maria Gasset, Giorgio Colombo

Evolutionary Analyses of Entire Genomes Do Not Support the Association of mtDNA Mutations with Ras/MAPK Pathway Syndromes

Alberto Gómez-Carballa, María Cerezo, [ ... ], Antonio Salas

Epistatic Roles for Pseudomonas aeruginosa MutS and DinB (DNA Pol IV) in Coping with Reactive Oxygen Species-Induced DNA Damage

Laurie H. Sanders, Babho Devadoss, [ ... ], Mark D. Sutton

A Systematic Study of Gene Mutations in Urothelial Carcinoma; Inactivating Mutations in TSC2 and PIK3R1

Gottfrid Sjödahl, Martin Lauss, [ ... ], David Lindgren

Splice Site Mutations in the ATP7A Gene

Tina Skjørringe, Zeynep Tümer, Lisbeth Birk Møller

Predicting Phenotypic Severity of Uncertain Gene Variants in the RET Proto-Oncogene

David K. Crockett, Stephen R. Piccolo, [ ... ], Joyce A. Mitchell

Genomic Signatures of Strain Selection and Enhancement in Bacillus atrophaeus var. globigii, a Historical Biowarfare Simulant

Henry S. Gibbons, Stacey M. Broomall, [ ... ], Evan W. Skowronski

A Structural Basis for Cellular Uptake of GST-Fold Proteins

Melanie J. Morris, Dan Liu, [ ... ], Marco G. Casarotto

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