Human RECQ Helicase Pathogenic Variants, Population Variation and “Missing” Diseases

Keyphrases

• Population Variation 100%
• RecQ Helicase 100%
• RECQL4 50%
• RECQL5 50%
• Helicase Gene 50%
• RECQL 33%
• Pathogenic Variation 16%
• Progeroid Features 16%
• Population Variants 16%
• Developmental Features 16%
• Deficiency Diseases 16%
• Mutation Sites 16%
• Rothmund-Thomson Syndrome 16%

Biochemistry, Genetics and Molecular Biology

• RECQL4 50%