Description: The patient had severe early-onset refractory seizures who had a compound heterozygous deletion involving an exon 6 to 8 deletion and a discontinuous deletion of intron 5 and exon 6 in the WWOX gene

Data type: Raw sequence reads; Genome sequencing

Sample scope: Monoisolate

Relevance: Medical

Release date: 2024-09-14

Last updated: 2024-09-14

Data size: 68.4GB