Associated Papers
Compound heterozygosity of a novel missense variant and exonic deletion in hypomyelinating leukodystrophy 15.
Mitsutake A et al.
Neurogenetics, 2026
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
Select a paper to view details