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Novel SPTAN1 variant mimicking hereditary spastic paraplegia (HSP)

Roshwanth A1, Balachandar Vellingiri2, Vikas Lakhanpal3

  • 1Department of Pediatrics, AIIMS Bathinda, Bathinda, Punjab, India.

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PubMed
Abstract

No abstract available in PubMed .

Keywords:
Developmental paediatrocsMovement disorders (other than Parkinsons)

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