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Mutation databases

Mutation spectrum analysis of Duchenne/Becker muscular dystrophy in 68 families in Kuwait: The era of personalized medicine

Fawziah Mohammed, Alaa Elshafey, [ ... ], Laila Bastaki

Complex interactions in a novel SCN5A compound mutation associated with long QT and Brugada syndrome: Implications for Na⁺ channel blocking pharmacotherapy for de novo conduction disease

Jie Liu, Jason D. Bayer, [ ... ], Vijay S. Chauhan

Cancer driver mutation prediction through Bayesian integration of multi-omic data

Zixing Wang, Kwok-Shing Ng, [ ... ], Ken Chen

ENTPRISE-X: Predicting disease-associated frameshift and nonsense mutations

Hongyi Zhou, Mu Gao, Jeffrey Skolnick

Novel putative drivers revealed by targeted exome sequencing of advanced solid tumors

Antonio Pannuti, Aleksandra Filipovic, [ ... ], Lucio Miele

Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3

Sezer Acar, Huda A. BinEssa, [ ... ], Yufei Shi

Selective identification of somatic mutations in pancreatic cancer cells through a combination of next-generation sequencing of plasma DNA using molecular barcodes and a bioinformatic variant filter

Yoji Kukita, Kazuyoshi Ohkawa, [ ... ], Kikuya Kato

ProtDataTherm: A database for thermostability analysis and engineering of proteins

Hassan Pezeshgi Modarres, Mohammad R. Mofrad, Amir Sanati-Nezhad

A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux

Amelie T. van der Ven, Birgit Kobbe, [ ... ], Friedhelm Hildebrandt

Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark

Ulrik Stoltze, Anne-Bine Skytte, [ ... ], Karin Wadt

Global computational mutagenesis provides a critical stability framework in protein structures

Caitlyn L. McCafferty, Yuri V. Sergeev

Markers of epithelial-to-mesenchymal transition reflect tumor biology according to patient age and Gleason score in prostate cancer

Dorota Jędroszka, Magdalena Orzechowska, [ ... ], Andrzej K. Bednarek

A common mechanism by which type 2A von Willebrand disease mutations enhance ADAMTS13 proteolysis revealed with a von Willebrand factor A2 domain FRET construct

Christopher J. Lynch, Adam D. Cawte, [ ... ], David A. Lane

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