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Missense mutation

Sequencing of DISC1 Pathway Genes Reveals Increased Burden of Rare Missense Variants in Schizophrenia Patients from a Northern Swedish Population

Lotte N. Moens, Peter De Rijk, [ ... ], Jurgen Del-Favero

In Silico and In Vitro Investigations of the Mutability of Disease-Causing Missense Mutation Sites in Spermine Synthase

Zhe Zhang, Joy Norris, Charles Schwartz, Emil Alexov

The Drosophila Mitochondrial Translation Elongation Factor G1 Contains a Nuclear Localization Signal and Inhibits Growth and DPP Signaling

Catherine Trivigno, Theodor E. Haerry

TDP-43-Mediated Neuron Loss In Vivo Requires RNA-Binding Activity

Aaron Voigt, David Herholz, [ ... ], Jörg B. Schulz

Transcription-Associated Mutagenesis Increases Protein Sequence Diversity More Effectively than Does Random Mutagenesis in Escherichia coli

Hyunchul Kim, Baek-Seok Lee, Masaru Tomita, Akio Kanai

Array-Based FMR1 Sequencing and Deletion Analysis in Patients with a Fragile X Syndrome–Like Phenotype

Stephen C. Collins, Brad Coffee, [ ... ], Stephen T. Warren

Crystal Structure of the N-Acetylmannosamine Kinase Domain of GNE

Yufeng Tong, Wolfram Tempel, [ ... ], Hee-Won Park

Protein Misfolding as an Underlying Molecular Defect in Mucopolysaccharidosis III Type C

Matthew Feldhammer, Stéphanie Durand, Alexey V. Pshezhetsky

The First Cellular Models Based on Frataxin Missense Mutations That Reproduce Spontaneously the Defects Associated with Friedreich Ataxia

Nadège Calmels, Stéphane Schmucker, [ ... ], Hélène Puccio

Toll-Like Receptor 4 (TLR4) and Typhoid Fever in Vietnam

Nguyen Thi Hue, Mai Ngoc Lanh, [ ... ], Sarah J. Dunstan

VHL Type 2B Mutations Retain VBC Complex Form and Function

Kathryn E. Hacker, Caroline Martz Lee, W. Kimryn Rathmell

Cataloging Coding Sequence Variations in Human Genome Databases

Hong-Hee Won, Hee-Jin Kim, Kyung-A Lee, Jong-Won Kim

Non-Syndromic Tooth Agenesis in Two Chinese Families Associated with Novel Missense Mutations in the TNF Domain of EDA (Ectodysplasin A)

Shufeng Li, Jiahuang Li, [ ... ], Zi-Chun Hua

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