Associated Papers
Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination.
Suh YA et al.
Frontiers in Pediatrics, 2024
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.
Whalen S et al.
European Journal of Human Genetics : Ejhg, 2021
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