Associated Papers
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Komatsu K et al.
Scientific Reports, 2024
39433808 (PubMed )
Supplement: 41598_2024_75020_MOESM2_ESM.xlsx › Supplementary_Table_S1
Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea.
Sörmann J et al.
Nature Genetics, 2022
36195757 (PubMed )
Supplement: 41588_2022_1185_MOESM3_ESM.pdf
Select a paper to view details