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ReviewMolecular genetics & genomic medicine2025

A De Novo Frameshift Variant in SMC1A Causes Non-Classic Cornelia de Lange Syndrome With Epilepsy: A Case Report and Literature Review.

Ying Yang et al.PubMed ↗Full text ↗Publisher ↗

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2 papers cite it

2025
2026
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Full record →Abstract, authors, funding and every citing paper · PMID 39831465