Detecting the Difficult: An Intronic NPC1 Variant Hiding in Plain Sight

Keyphrases

• Niemann-Pick C1-like 1 (NPC1L1) 100%
• Hiding in Plain Sight 100%
• Homopolymer 66%
• Molecular Analysis 33%
• Inborn Errors of Metabolism 33%
• New Therapies 33%
• Data Review 33%
• Genetic Disease 33%
• Family Members 33%
• Family Risk 33%
• Next-generation Sequencing Technology 33%
• Next-generation Sequencing Data 33%
• Young Males 33%
• Autosomal Recessive 33%
• Manual Review 33%
• Splice Site 33%
• Sanger Sequencing 33%
• Causative Variant 33%
• Short Reads 33%
• Splice Donor Site 33%
• Rare Association 33%
• Heterozygous Variant 33%
• Intronic Variant 33%
• Heterozygous Pathogenic Variants 33%
• NP-C 33%

Medicine and Dentistry

• Next Generation Sequencing 100%
• Inborn Error of Metabolism 50%
• Genetic Disorder 50%
• Autosomal Recessive Inheritance 50%
• Donor Site 50%
• Niemann-Pick Disease 50%
• Sanger Sequencing 50%

Biochemistry, Genetics and Molecular Biology

• Niemann-Pick Disease 33%