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A novel ATP7A splice‑site variant with suspected maternal gonadal mosaicism in Menkes disease: functional validation and prenatal diagnosis
Oct 11, 2026
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Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
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An extremely old giant tortoise named Jonathan may hold the secret to a long, healthy life
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Cross-lineage anomaly detection of microRNA expression: a framework for deriving exploratory candidate biomarkers in sarcoma
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