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Substitution mutation

Principles and Determinants of G-Protein Coupling by the Rhodopsin-Like Thyrotropin Receptor

Gunnar Kleinau, Holger Jaeschke, [ ... ], Gerd Krause

Three New Alpha1-Antitrypsin Deficiency Variants Help to Define a C-Terminal Region Regulating Conformational Change and Polymerization

Anna M. Fra, Bibek Gooptu, [ ... ], Luisa Schiaffonati

De Novo Sequencing of Astyanax mexicanus Surface Fish and Pachón Cavefish Transcriptomes Reveals Enrichment of Mutations in Cavefish Putative Eye Genes

Hélène Hinaux, Julie Poulain, [ ... ], Sylvie Rétaux

Heterogeneous Adaptive Trajectories of Small Populations on Complex Fitness Landscapes

Daniel E. Rozen, Michelle G. J. L. Habets, Andreas Handel, J. Arjan G. M. de Visser

Improved bacterial leaf blight disease resistance in the major elite Vietnamese rice cultivar TBR225 via editing of the OsSWEET14 promoter

Phuong Nguyen Duy, Dai Tran Lan, [ ... ], Xuan Hoi Pham

Technical Evaluation: Identification of Pathogenic Mutations in PKD1 and PKD2 in Patients with Autosomal Dominant Polycystic Kidney Disease by Next-Generation Sequencing and Use of a Comprehensive New Classification System

Moritoshi Kinoshita, Eiji Higashihara, [ ... ], Kikuo Nutahara

Splice Site Mutations in the ATP7A Gene

Tina Skjørringe, Zeynep Tümer, Lisbeth Birk Møller

Bi-Directional SIFT Predicts a Subset of Activating Mutations

William Lee, Yan Zhang, [ ... ], Zemin Zhang

6 Minute Walk Test in Duchenne MD Patients with Different Mutations: 12 Month Changes

Marika Pane, Elena S. Mazzone, [ ... ], Eugenio Mercuri

Rapid detection of multidrug-resistant tuberculosis based on allele-specific recombinase polymerase amplification and colorimetric detection

Nuntita Singpanomchai, Yukihiro Akeda, [ ... ], Panan Ratthawongjirakul

Genomic surveillance, evolution and global transmission of SARS-CoV-2 during 2019–2022

Nadim Sharif, Khalid J. Alzahrani, [ ... ], Shuvra Kanti Dey

Detecting Clusters of Mutations

Tong Zhou, Peter J. Enyeart, Claus O. Wilke

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

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

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