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Mutation databases

Comprehensive in silico analysis and molecular dynamics of the superoxide dismutase 1 (SOD1) variants related to amyotrophic lateral sclerosis

Gabriel Rodrigues Coutinho Pereira, Bárbara de Azevedo Abrahim Vieira, Joelma Freire De Mesquita

The Mutational Spectrum in a Cohort of Charcot-Marie-Tooth Disease Type 2 among the Han Chinese in Taiwan

Kon-Ping Lin, Bing-Wen Soong, [ ... ], Yi-Chung Lee

Prominent features of the amino acid mutation landscape in cancer

Zachary A. Szpiech, Nicolas B. Strauli, [ ... ], Ryan D. Hernandez

Comparative analysis of web-based programs for single amino acid substitutions in proteins

Arunabh Choudhury, Taj Mohammad, [ ... ], Md. Imtaiyaz Hassan

Minor Hypospadias: The “Tip of the Iceberg” of the Partial Androgen Insensitivity Syndrome

Nicolas Kalfa, Pascal Philibert, [ ... ], Charles Sultan

Segtor: Rapid Annotation of Genomic Coordinates and Single Nucleotide Variations Using Segment Trees

Gabriel Renaud, Pedro Neves, [ ... ], Fabio Passetti

Molecular subtype specific efficacy of MEK inhibitors in pancreatic cancers

Diána Brauswetter, Bianka Gurbi, [ ... ], István Peták

Calmodulin 2 Mutation N98S Is Associated with Unexplained Cardiac Arrest in Infants Due to Low Clinical Penetrance Electrical Disorders

Juan Jiménez-Jáimez, Julián Palomino Doza, [ ... ], Luis Tercedor

Relating the Disease Mutation Spectrum to the Evolution of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)

Lavanya Rishishwar, Neha Varghese, [ ... ], Nael A. McCarty

Image Correlation Method for DNA Sequence Alignment

Millaray Curilem Saldías, Felipe Villarroel Sassarini, [ ... ], Iván Maureira Butler

Low Input Whole-Exome Sequencing to Determine the Representation of the Tumor Exome in Circulating DNA of Non-Small Cell Lung Cancer Patients

Steffen Dietz, Uwe Schirmer, [ ... ], Holger Sültmann

Ocular Signs Correlate Well with Disease Severity and Genotype in Fabry Disease

Susanne Pitz, Gisela Kalkum, [ ... ], Andreas Gal

Screening for Streptomycin Resistance-Conferring Mutations in Mycobacterium tuberculosis Clinical Isolates from Poland

Tomasz Jagielski, Helena Ignatowska, [ ... ], Jacek Bielecki

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