Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1217392.RAWXcbTjL5CHn3XvME97B-rH4bLe5KmNuwf0qEXKhejFM130_assertion> ?p ?o ?g. }
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- NP1217392.RAWXcbTjL5CHn3XvME97B-rH4bLe5KmNuwf0qEXKhejFM130_assertion type Assertion NP1217392.RAWXcbTjL5CHn3XvME97B-rH4bLe5KmNuwf0qEXKhejFM130_head.
- NP1217392.RAWXcbTjL5CHn3XvME97B-rH4bLe5KmNuwf0qEXKhejFM130_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." NP1217392.RAWXcbTjL5CHn3XvME97B-rH4bLe5KmNuwf0qEXKhejFM130_provenance.
- NP1217392.RAWXcbTjL5CHn3XvME97B-rH4bLe5KmNuwf0qEXKhejFM130_assertion evidence source_evidence_literature NP1217392.RAWXcbTjL5CHn3XvME97B-rH4bLe5KmNuwf0qEXKhejFM130_provenance.
- NP1217392.RAWXcbTjL5CHn3XvME97B-rH4bLe5KmNuwf0qEXKhejFM130_assertion SIO_000772 25193411 NP1217392.RAWXcbTjL5CHn3XvME97B-rH4bLe5KmNuwf0qEXKhejFM130_provenance.
- NP1217392.RAWXcbTjL5CHn3XvME97B-rH4bLe5KmNuwf0qEXKhejFM130_assertion wasDerivedFrom befree-2016 NP1217392.RAWXcbTjL5CHn3XvME97B-rH4bLe5KmNuwf0qEXKhejFM130_provenance.
- NP1217392.RAWXcbTjL5CHn3XvME97B-rH4bLe5KmNuwf0qEXKhejFM130_assertion wasGeneratedBy ECO_0000203 NP1217392.RAWXcbTjL5CHn3XvME97B-rH4bLe5KmNuwf0qEXKhejFM130_provenance.