Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.
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medRxiv [Preprint]. 2024 Oct 4:2024.10.04.24313542. doi: 10.1101/2024.10.04.24313542.
medRxiv. 2024.
PMID: 39802796
Free PMC article.
Preprint.