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- source_evidence_literature type ECO_0000212 NP1235143.RAkcf05i039zNhxxPBrBn17qQppFGA_tQQe-v16m89bak130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1235143.RAkcf05i039zNhxxPBrBn17qQppFGA_tQQe-v16m89bak130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1235143.RAkcf05i039zNhxxPBrBn17qQppFGA_tQQe-v16m89bak130_provenance.
- NP1235143.RAkcf05i039zNhxxPBrBn17qQppFGA_tQQe-v16m89bak130_assertion description "[The deleterious effect of this alteration, which was the only mutation detected in the CYP27B1 common gene of Vitamin D dependent rickets type 1 in the proband, and its autosomal recessive inheritance fashion, both support a pathogenic nature of this mutation as the cause of Vitamin D dependent rickets type 1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1235143.RAkcf05i039zNhxxPBrBn17qQppFGA_tQQe-v16m89bak130_provenance.
- NP1235143.RAkcf05i039zNhxxPBrBn17qQppFGA_tQQe-v16m89bak130_assertion evidence source_evidence_literature NP1235143.RAkcf05i039zNhxxPBrBn17qQppFGA_tQQe-v16m89bak130_provenance.
- NP1235143.RAkcf05i039zNhxxPBrBn17qQppFGA_tQQe-v16m89bak130_assertion SIO_000772 25371233 NP1235143.RAkcf05i039zNhxxPBrBn17qQppFGA_tQQe-v16m89bak130_provenance.
- NP1235143.RAkcf05i039zNhxxPBrBn17qQppFGA_tQQe-v16m89bak130_assertion wasDerivedFrom befree-2016 NP1235143.RAkcf05i039zNhxxPBrBn17qQppFGA_tQQe-v16m89bak130_provenance.
- NP1235143.RAkcf05i039zNhxxPBrBn17qQppFGA_tQQe-v16m89bak130_assertion wasGeneratedBy ECO_0000203 NP1235143.RAkcf05i039zNhxxPBrBn17qQppFGA_tQQe-v16m89bak130_provenance.
- befree-2016 importedOn "2016-02-19" NP1235143.RAkcf05i039zNhxxPBrBn17qQppFGA_tQQe-v16m89bak130_provenance.