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- source_evidence_literature type ECO_0000212 NP328414.RABYp2XEc54UINE0wx4tq7o1OwNvTatpBTqwYne7tdrvg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP328414.RABYp2XEc54UINE0wx4tq7o1OwNvTatpBTqwYne7tdrvg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP328414.RABYp2XEc54UINE0wx4tq7o1OwNvTatpBTqwYne7tdrvg130_provenance.
- NP328414.RABYp2XEc54UINE0wx4tq7o1OwNvTatpBTqwYne7tdrvg130_assertion description "[Our finding expands the spectrum of cataract phenotypes caused by the Q155X mutation of CRYBB2, confirms the phenotypic heterogeneity of this mutation and suggests the mechanism that influences the congenital cataract formation in different ethnic backgrounds.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP328414.RABYp2XEc54UINE0wx4tq7o1OwNvTatpBTqwYne7tdrvg130_provenance.
- NP328414.RABYp2XEc54UINE0wx4tq7o1OwNvTatpBTqwYne7tdrvg130_assertion evidence source_evidence_literature NP328414.RABYp2XEc54UINE0wx4tq7o1OwNvTatpBTqwYne7tdrvg130_provenance.
- NP328414.RABYp2XEc54UINE0wx4tq7o1OwNvTatpBTqwYne7tdrvg130_assertion SIO_000772 16179907 NP328414.RABYp2XEc54UINE0wx4tq7o1OwNvTatpBTqwYne7tdrvg130_provenance.
- NP328414.RABYp2XEc54UINE0wx4tq7o1OwNvTatpBTqwYne7tdrvg130_assertion wasDerivedFrom befree-20150227 NP328414.RABYp2XEc54UINE0wx4tq7o1OwNvTatpBTqwYne7tdrvg130_provenance.
- NP328414.RABYp2XEc54UINE0wx4tq7o1OwNvTatpBTqwYne7tdrvg130_assertion wasGeneratedBy ECO_0000203 NP328414.RABYp2XEc54UINE0wx4tq7o1OwNvTatpBTqwYne7tdrvg130_provenance.
- befree-20150227 importedOn "2015-02-27" NP328414.RABYp2XEc54UINE0wx4tq7o1OwNvTatpBTqwYne7tdrvg130_provenance.