A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney Disease

Medicine and Dentistry

• Allele 100%
• Neonates 100%
• Autosomal Recessive Polycystic Kidney Disease 100%
• In Vitro 50%
• Prematurity 50%
• Genetic Screening 50%
• Neonatal Intensive Care Unit 50%
• Neonatal Infant 50%
• Expression Analysis 50%
• Newborn Death 50%
• Sanger Sequencing 50%
• Exon 50%
• Whole Genome Sequencing 50%
• Intron 50%
• Messenger RNA 50%
• Reverse Transcription Polymerase Chain Reaction 50%
• Stop Codon 50%

Biochemistry, Genetics and Molecular Biology

• Allele 100%
• Autosomal Recessive Inheritance 100%
• Exon 50%
• Whole Genome Sequencing 50%
• Expression Analysis 50%
• Stop Codon 50%
• Missense 50%
• Genetic Screening 50%
• Intron 50%
• Messenger RNA 50%
• Reverse Transcription Polymerase Chain Reaction 50%
• Dideoxynucleotide Sequencing 50%