Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP6016.RANIYApyGoTDc_8TtM_Eo22R02AQ42KV_b7sJ-QtpCe1s130_assertion> ?p ?o ?g. }
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- NP6016.RANIYApyGoTDc_8TtM_Eo22R02AQ42KV_b7sJ-QtpCe1s130_assertion type Assertion NP6016.RANIYApyGoTDc_8TtM_Eo22R02AQ42KV_b7sJ-QtpCe1s130_head.
- NP6016.RANIYApyGoTDc_8TtM_Eo22R02AQ42KV_b7sJ-QtpCe1s130_assertion description "[Mutations in a new gene, SLC19A2, encoding a putative transmembrane protein homologous to the reduced folate carrier proteins, were found in all affected individuals in six TRMA families, suggesting that a defective thiamine transporter protein (THTR-1) may underlie the TRMA syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6016.RANIYApyGoTDc_8TtM_Eo22R02AQ42KV_b7sJ-QtpCe1s130_provenance.
- NP6016.RANIYApyGoTDc_8TtM_Eo22R02AQ42KV_b7sJ-QtpCe1s130_assertion evidence source_evidence_curated NP6016.RANIYApyGoTDc_8TtM_Eo22R02AQ42KV_b7sJ-QtpCe1s130_provenance.
- NP6016.RANIYApyGoTDc_8TtM_Eo22R02AQ42KV_b7sJ-QtpCe1s130_assertion SIO_000772 10391221 NP6016.RANIYApyGoTDc_8TtM_Eo22R02AQ42KV_b7sJ-QtpCe1s130_provenance.
- NP6016.RANIYApyGoTDc_8TtM_Eo22R02AQ42KV_b7sJ-QtpCe1s130_assertion wasDerivedFrom uniprot-20130724 NP6016.RANIYApyGoTDc_8TtM_Eo22R02AQ42KV_b7sJ-QtpCe1s130_provenance.
- NP6016.RANIYApyGoTDc_8TtM_Eo22R02AQ42KV_b7sJ-QtpCe1s130_assertion wasGeneratedBy ECO_0000218 NP6016.RANIYApyGoTDc_8TtM_Eo22R02AQ42KV_b7sJ-QtpCe1s130_provenance.