ClinVar Miner

List of variants studied for PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome by Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

Included ClinVar conditions (2):
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Total variants: 1
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NM_005859.5(PURA):c.407_420dup (p.Ala142fs) rs1561793219

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