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- source_evidence_literature type ECO_0000212 NP720028.RAX6rE_-hJW5zS9lK8sJMRZf0Z-P-Kr4s0QzUeSoVUIDw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP720028.RAX6rE_-hJW5zS9lK8sJMRZf0Z-P-Kr4s0QzUeSoVUIDw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP720028.RAX6rE_-hJW5zS9lK8sJMRZf0Z-P-Kr4s0QzUeSoVUIDw130_provenance.
- NP720028.RAX6rE_-hJW5zS9lK8sJMRZf0Z-P-Kr4s0QzUeSoVUIDw130_assertion description "[A de novo 9q33.3-q34.11 microdeletion involving STXBP1 has been found in one of four individuals (group A) with early-onset West syndrome, severe hypomyelination, poor visual attention, and developmental delay.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP720028.RAX6rE_-hJW5zS9lK8sJMRZf0Z-P-Kr4s0QzUeSoVUIDw130_provenance.
- NP720028.RAX6rE_-hJW5zS9lK8sJMRZf0Z-P-Kr4s0QzUeSoVUIDw130_assertion evidence source_evidence_literature NP720028.RAX6rE_-hJW5zS9lK8sJMRZf0Z-P-Kr4s0QzUeSoVUIDw130_provenance.
- NP720028.RAX6rE_-hJW5zS9lK8sJMRZf0Z-P-Kr4s0QzUeSoVUIDw130_assertion SIO_000772 20493457 NP720028.RAX6rE_-hJW5zS9lK8sJMRZf0Z-P-Kr4s0QzUeSoVUIDw130_provenance.
- NP720028.RAX6rE_-hJW5zS9lK8sJMRZf0Z-P-Kr4s0QzUeSoVUIDw130_assertion wasDerivedFrom befree-20150227 NP720028.RAX6rE_-hJW5zS9lK8sJMRZf0Z-P-Kr4s0QzUeSoVUIDw130_provenance.
- NP720028.RAX6rE_-hJW5zS9lK8sJMRZf0Z-P-Kr4s0QzUeSoVUIDw130_assertion wasGeneratedBy ECO_0000203 NP720028.RAX6rE_-hJW5zS9lK8sJMRZf0Z-P-Kr4s0QzUeSoVUIDw130_provenance.
- befree-20150227 importedOn "2015-02-27" NP720028.RAX6rE_-hJW5zS9lK8sJMRZf0Z-P-Kr4s0QzUeSoVUIDw130_provenance.