BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
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Engel C, et al. Among authors: straussberg r.
Eur J Hum Genet. 2023 Sep;31(9):1023-1031. doi: 10.1038/s41431-023-01410-z. Epub 2023 Jun 21.
Eur J Hum Genet. 2023.
PMID: 37344571
Free PMC article.