Detection of variants in SLC6A8 and functional analysis of unclassified missense variants

INIS

• detection 100%
• mutations 100%
• creatine 100%
• functional analysis 100%
• screening 33%
• diseases 33%
• patients 33%
• validation 33%
• females 33%
• dna 33%
• genes 33%
• uptake 33%
• classification 33%
• etiology 33%
• fibroblasts 33%
• mosaicism 33%

Keyphrases

• Missense Variants 100%
• Functional Analysis 100%
• SLC6A8 100%
• Leiden 28%
• Variant Database 28%
• Denaturing High-performance Liquid Chromatography (DHPLC) 28%
• Large Cohort 14%
• Disease-associated 14%
• Unknown Etiology 14%
• Fibroblasts 14%
• Mild Intellectual Disability 14%
• Rapid Screening 14%
• Pathogenic Variants 14%
• X-linked Disorder 14%
• Pathogenic mutations 14%
• Somatic Mosaicism 14%
• Residual Activity 14%
• SLC6A8 Gene 14%
• Creatine Transporter Deficiency 14%
• Creatine Uptake 14%

Biochemistry, Genetics and Molecular Biology

• Missense 100%
• SLC6A8 100%
• Denaturing High Performance Liquid Chromatography 25%
• Intellectual Disability 12%
• Mosaicism 12%
• Screening 12%
• Fibroblast 12%