Sequence variants in HECTD1 result in a variable neurodevelopmental disorder.
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Am J Hum Genet. 2025 Jan 23:S0002-9297(25)00001-1. doi: 10.1016/j.ajhg.2025.01.001. Online ahead of print.
Am J Hum Genet. 2025.
PMID: 39879987