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- source_evidence_literature type ECO_0000212 NP967213.RAqdlPK2Qhu9QKh1l92fq94Xg66BdAjzhuzV4QWpsMAE8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP967213.RAqdlPK2Qhu9QKh1l92fq94Xg66BdAjzhuzV4QWpsMAE8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP967213.RAqdlPK2Qhu9QKh1l92fq94Xg66BdAjzhuzV4QWpsMAE8130_provenance.
- NP967213.RAqdlPK2Qhu9QKh1l92fq94Xg66BdAjzhuzV4QWpsMAE8130_assertion description "[Mutations in the CYP2R1 gene, highly expressed in the testis and encoding vitamin D 25-hydroxylase, result in a vitamin D deficiency and a defective calcium homeostasis leading to rickets.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP967213.RAqdlPK2Qhu9QKh1l92fq94Xg66BdAjzhuzV4QWpsMAE8130_provenance.
- NP967213.RAqdlPK2Qhu9QKh1l92fq94Xg66BdAjzhuzV4QWpsMAE8130_assertion evidence source_evidence_literature NP967213.RAqdlPK2Qhu9QKh1l92fq94Xg66BdAjzhuzV4QWpsMAE8130_provenance.
- NP967213.RAqdlPK2Qhu9QKh1l92fq94Xg66BdAjzhuzV4QWpsMAE8130_assertion SIO_000772 21270327 NP967213.RAqdlPK2Qhu9QKh1l92fq94Xg66BdAjzhuzV4QWpsMAE8130_provenance.
- NP967213.RAqdlPK2Qhu9QKh1l92fq94Xg66BdAjzhuzV4QWpsMAE8130_assertion wasDerivedFrom befree-20150227 NP967213.RAqdlPK2Qhu9QKh1l92fq94Xg66BdAjzhuzV4QWpsMAE8130_provenance.
- NP967213.RAqdlPK2Qhu9QKh1l92fq94Xg66BdAjzhuzV4QWpsMAE8130_assertion wasGeneratedBy ECO_0000203 NP967213.RAqdlPK2Qhu9QKh1l92fq94Xg66BdAjzhuzV4QWpsMAE8130_provenance.
- befree-20150227 importedOn "2015-02-27" NP967213.RAqdlPK2Qhu9QKh1l92fq94Xg66BdAjzhuzV4QWpsMAE8130_provenance.