ClinVar Miner

List of variants studied for PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation by Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine

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Total variants: 1
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HGVS dbSNP
NM_005859.5(PURA):c.159dup (p.Leu54fs) rs1554129040

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