Associated Papers
Clinical outcomes of ABCB4 heterozygosity in infants and children with cholestatic liver disease.
Hegarty R et al.
Journal of Pediatric Gastroenterology and Nutrition, 2024
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT et al.
Genome Medicine, 2023
37946251 (PubMed )
Supplement: 13073_2023_1240_MOESM2_ESM.docx
Select a paper to view details