Associated Papers
Compound heterozygous loss-of-function variants in BRAT1 cause lethal neonatal rigidity and multifocal seizure syndrome.
Li S et al.
Molecular Genetics & Genomic Medicine, 2023
The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure.
Kim SY et al.
Orphanet Journal of Rare Diseases, 2022
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