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Frameshift mutation

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Frameshift mutation

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IROme, a New High-Throughput Molecular Tool for the Diagnosis of Inherited Retinal Dystrophies

Molecular basis of telomere syndrome caused by CTC1 mutations

Mutator/hypermutable fetal/juvenile metakaryotic stem cells and human colorectal carcinogenesis

Improving binding affinity and stability of peptide ligands by substituting glycines with D-amino acids

A DNA Coarse-Grain Rigid Base Model and Parameter Estimation from Molecular Dynamics Simulations

Common Pathogenic Effects of Missense Mutations in the P-Type ATPase ATP13A2 (PARK9) Associated with Early-Onset Parkinsonism

VAX1 Mutation Associated with Microphthalmia, Corpus Callosum Agenesis, and Orofacial Clefting: The First Description of a VAX1 Phenotype in Humans

A Point Mutation in cycA Partially Contributes to the D-cycloserine Resistance Trait of Mycobacterium bovis BCG Vaccine Strains

Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

Neurodegenerative phenotypes in an A53T-synuclein transgenic mouse model are independent of LRRK2