Associated Papers
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_MOESM3_ESM.xlsx › Table_S7_ResultsAllVariant
A novel SLC30A10 missense variant associated with parkinsonism and dystonia without hypermanganesemia.
Lambrianides S et al.
Journal of the Neurological Sciences, 2020
Select a paper to view details