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- assertion description "[We describe a 12-year-old boy with neonatal onset of extremely severe complicated spastic paraplegia 3A associated with a de novo c.1226G>A (p.G409D) mutation in ATL1, a gene which encodes atlatsin GTPase 1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 25193411 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.