Biallelic loss of function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome.
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Engal E, et al. Among authors: salton m.
medRxiv [Preprint]. 2023 Jun 27:2023.06.19.23291425. doi: 10.1101/2023.06.19.23291425.
medRxiv. 2023.
PMID: 37425688
Free PMC article.
Updated.
Preprint.