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Nonsense mutation

Molecular Genetics and Functional Anomalies in a Series of 248 Brugada Cases with 11 Mutations in the TRPM4 Channel

Hui Liu, Stéphanie Chatel, [ ... ], Patrice Bouvagnet

Identification of the DNA Repair Defects in a Case of Dubowitz Syndrome

Jingyin Yue, Huimei Lu, [ ... ], Zhiyuan Shen

The Spectrum of SWI/SNF Mutations, Ubiquitous in Human Cancers

A. Hunter Shain, Jonathan R. Pollack

Identification of a Nonsense Mutation in CWC15 Associated with Decreased Reproductive Efficiency in Jersey Cattle

Tad S. Sonstegard, John B. Cole, [ ... ], Matthew C. McClure

Plexin A3 and Turnout Regulate Motor Axonal Branch Morphogenesis in Zebrafish

Rajiv Sainath, Michael Granato

Mutations in the Hedgehog Pathway Genes SMO and PTCH1 in Human Gastric Tumors

Xi-De Wang, Hector Inzunza, [ ... ], John Cogswell

A Functional Alternative Splicing Mutation in AIRE Gene Causes Autoimmune Polyendocrine Syndrome Type 1

Junyu Zhang, Hongbin Liu, [ ... ], Qinghe Xing

Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype

Isabelle Perrault, Alejandro Estrada-Cuzcano, [ ... ], Jean-Michel Rozet

Exome Capture Sequencing of Adenoma Reveals Genetic Alterations in Multiple Cellular Pathways at the Early Stage of Colorectal Tumorigenesis

Donger Zhou, Liu Yang, [ ... ], Shu Zheng

Structure of the TPR Domain of AIP: Lack of Client Protein Interaction with the C-Terminal α-7 Helix of the TPR Domain of AIP Is Sufficient for Pituitary Adenoma Predisposition

Rhodri M. L. Morgan, Laura C. Hernández-Ramírez, [ ... ], Chrisostomos Prodromou

First WNK4-Hypokalemia Animal Model Identified by Genome-Wide Association in Burmese Cats

Barbara Gandolfi, Timothy J. Gruffydd-Jones, [ ... ], Leslie A. Lyons

How the Leopard Hides Its Spots: ASIP Mutations and Melanism in Wild Cats

Alexsandra Schneider, Victor A. David, [ ... ], Eduardo Eizirik

The Bioenergetic Status Relates to Dopamine Neuron Loss in Familial PD with PINK1 Mutations

Rüediger Hilker, Ulrich Pilatus, [ ... ], Elke Hattingen

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