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ArticleMolecular genetics & genomic medicine2025

Accelerated Identification and Preliminary Validation of a Pathogenic Missense Variant in the L1CAM Gene in a Pregnant Woman With Sonographic Anomalies Using AlphaMissense.

Zhihui Wang et al.PubMed ↗Full text ↗Publisher ↗

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2025
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Full record →Abstract, authors, funding and every citing paper · PMID 41423712