Associated Papers
Novel Compound Heterozygous Variants in the TCTN2 Gene Causing Meckel-Gruber Syndrome 8 in a Non-Consanguineous Chinese Family.
Yang Q et al.
Molecular Genetics & Genomic Medicine, 2025
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
Novel variants identified in five Chinese families with Joubert Syndrome: a case report.
Fang L et al.
Bmc Medical Genomics, 2023
A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome.
Hiraide T et al.
Journal of Human Genetics, 2023
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