Progress in Understanding the Biology of the Human Mutagen LINE-1
Mutations in the Fibrinogen Gene Cluster Accounting for Congenital Afibrinogenemia: An Update and Report of 10 Novel Mutations
PhenCode: Connecting ENCODE Data With Mutations and Phenotype
Elucidation of Penetrance Variability of a ZIC3 Mutation in a Family With Complex Heart Defects and Functional Analysis of ZIC3 Mutations in the First Zinc Finger Domain
Truncating Mutation of the DFNB59 Gene Causes Cochlear Hearing Impairment and Central Vestibular Dysfunction
Ultraviolet Radiation and Melanoma: A Systematic Review and Analysis of Reported Sequence Variants
Retinopathy Mutations in the bZIP Protein NRL Alter Phosphorylation and Transcriptional Activity
Extensive In Silico Analysis of NF1 Splicing Defects Uncovers Determinants for Splicing Outcome Upon 5′ Splice-Site Disruption
Loss of the Actin Regulator HSPC300 Results in Clear Cell Renal Cell Carcinoma Protection in Von Hippel-Lindau Patients
Impact of Mutant p53 Functional Properties on TP53 Mutation Patterns and Tumor Phenotype: Lessons from Recent Developments in the IARC TP53 Database
Highly Sensitive DNA Detection and Point Mutation Identification: An Electrochemical Approach Based on the Combined Use of Ligase and Reverse Molecular Beacon
Novel Mutations in the ZEB1 Gene Identified in Czech and British Patients With Posterior Polymorphous Corneal Dystrophy
Aberrant Splicing Is a Common Mutational Mechanism in MKS1 , a Key Player in Meckel-Gruber Syndrome
Missense and Silent Mutations in COL2A1 Result in Stickler Syndrome but Via Different Molecular Mechanisms