Exome-based search for recurrent disease-causing alleles in Russian population

Keyphrases

• Cause of Disease 100%
• Exome 100%
• Russian Population 100%
• Recurrent Disease 100%
• Protein-truncating Variants 100%
• Genetic Studies 50%
• Wilson Disease 50%
• Amino Acid Substitution 50%
• Disease Pattern 50%
• Xeroderma pigmentosum 50%
• Genetic Behavior 50%
• Missense mutation 50%
• LCHAD Deficiency 50%
• CYP21A2 50%
• Adrenogenital Syndrome 50%
• Medical Genetics 50%
• Complement Components 50%
• Retinitis pigmentosa 50%
• HADHA 50%
• Spermatogenic Failure 50%
• SERPINA1 50%
• Recessive Disease 50%
• Von Willebrand Disease 50%
• ClinVar 50%
• Cytochrome c Oxidase Deficiency 50%
• Pituitary Hormone Deficiency 50%
• Population Control 50%
• CatSper1 50%
• Complement Component 2 50%
• Sensorineural Deafness 50%
• ACADVL 50%
• VLCAD Deficiency 50%
• Supercritical CO2 (SCO2) 50%
• PROP1 50%
• Acral Peeling Skin Syndrome 50%
• ATP7B 50%
• Classical Form 50%
• Disease Genes 50%
• Alpha-1 Antitrypsin Deficiency 50%

Medicine and Dentistry

• Recurrent Disease 100%
• Allele 100%
• Exome 100%
• Disease 33%
• Wilson's Disease 33%
• Sensorineural Hearing Loss 33%
• Von Willebrand Factor 33%
• Amino Acid Substitution 33%
• Complement 33%
• Retinitis pigmentosa 33%
• Missense Mutation 33%
• Xeroderma pigmentosum 33%
• Hormone Deficiency 33%
• Population Dynamics 33%
• Hypophysis Hormone 33%
• Complement Component C2 33%
• Von Willebrand Disease 33%
• Cytochrome C Oxidase Deficiency 33%
• Chemexfoliation 33%
• Alpha 1-Antitrypsin Deficiency 33%
• Index Case 33%
• Congenital Adrenal Hyperplasia 33%

Biochemistry, Genetics and Molecular Biology

• Allele 100%
• Exome 100%
• Genetics 33%
• Amino Acid Substitution 33%
• Population Dynamics 33%
• Missense Mutation 33%
• Alpha 1-Antitrypsin 33%
• Xeroderma pigmentosum 33%
• Von Willebrand Disease 33%
• ACADVL 33%
• Von Willebrand Factor 33%
• Medical Genetics 33%
• Pituitary Hormone 33%
• HADHA 33%
• Complement Component 2 33%
• Cytochrome C Oxidase 33%
• Retinitis pigmentosa 33%
• SCO2 33%
• PROP1 33%