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- source_evidence_literature type ECO_0000212 NP471673.RAMZrkucRSGjXNUMp3QCv4G_U0piyGYq00ZiS5nDnSbAQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP471673.RAMZrkucRSGjXNUMp3QCv4G_U0piyGYq00ZiS5nDnSbAQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP471673.RAMZrkucRSGjXNUMp3QCv4G_U0piyGYq00ZiS5nDnSbAQ130_provenance.
- NP471673.RAMZrkucRSGjXNUMp3QCv4G_U0piyGYq00ZiS5nDnSbAQ130_assertion description "[Heterozygous loss-of-function mutations in AFG3L2 cause autosomal-dominant spinocerebellar ataxia type 28 (SCA28), a disorder whose phenotype is strikingly different from that of our patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP471673.RAMZrkucRSGjXNUMp3QCv4G_U0piyGYq00ZiS5nDnSbAQ130_provenance.
- NP471673.RAMZrkucRSGjXNUMp3QCv4G_U0piyGYq00ZiS5nDnSbAQ130_assertion evidence source_evidence_literature NP471673.RAMZrkucRSGjXNUMp3QCv4G_U0piyGYq00ZiS5nDnSbAQ130_provenance.
- NP471673.RAMZrkucRSGjXNUMp3QCv4G_U0piyGYq00ZiS5nDnSbAQ130_assertion SIO_000772 22022284 NP471673.RAMZrkucRSGjXNUMp3QCv4G_U0piyGYq00ZiS5nDnSbAQ130_provenance.
- NP471673.RAMZrkucRSGjXNUMp3QCv4G_U0piyGYq00ZiS5nDnSbAQ130_assertion wasDerivedFrom befree-20140225 NP471673.RAMZrkucRSGjXNUMp3QCv4G_U0piyGYq00ZiS5nDnSbAQ130_provenance.
- NP471673.RAMZrkucRSGjXNUMp3QCv4G_U0piyGYq00ZiS5nDnSbAQ130_assertion wasGeneratedBy ECO_0000203 NP471673.RAMZrkucRSGjXNUMp3QCv4G_U0piyGYq00ZiS5nDnSbAQ130_provenance.
- befree-20140225 importedOn "2014-02-25" NP471673.RAMZrkucRSGjXNUMp3QCv4G_U0piyGYq00ZiS5nDnSbAQ130_provenance.