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
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.
Musante L et al.
American Journal of Medical Genetics. Part A, 2022
35670379 (PubMed )
Supplement: AJMG-188-2652-s001.xlsx › Table_S2_details_TTC5_patients
A boy with biallelic frameshift variants in TTC5 and brain malformation resembling tubulinopathies.
Miyamoto S et al.
Journal of Human Genetics, 2021
Select a paper to view details