Associated Papers
TRAPPopathies: Severe Multisystem Disorders Caused by Variants in Genes of the Transport Protein Particle (TRAPP) Complexes.
Hall R et al.
International Journal of Molecular Sciences, 2024
Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.
Majethia P et al.
Clinical Genetics, 2024
38374498 (PubMed )
Supplement: EMS195231-supplement-Supplementary_tables.xlsx › S3_Published
Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy.
Majethia P et al.
Annals of Human Genetics, 2022
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