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- source_evidence_literature type ECO_0000212 NP1065710.RAHpc4-D9l4STYHnfaB5767yd5fb0ALo86HW_ZqjLWssY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1065710.RAHpc4-D9l4STYHnfaB5767yd5fb0ALo86HW_ZqjLWssY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1065710.RAHpc4-D9l4STYHnfaB5767yd5fb0ALo86HW_ZqjLWssY130_provenance.
- NP1065710.RAHpc4-D9l4STYHnfaB5767yd5fb0ALo86HW_ZqjLWssY130_assertion description "[Using autozygosity mapping and exome sequencing, we have identified a homozygous missense mutation in CERS3 in patients with congenital ichthyosis characterized by collodion membranes at birth, generalized scaling of the skin, and mild erythroderma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1065710.RAHpc4-D9l4STYHnfaB5767yd5fb0ALo86HW_ZqjLWssY130_provenance.
- NP1065710.RAHpc4-D9l4STYHnfaB5767yd5fb0ALo86HW_ZqjLWssY130_assertion evidence source_evidence_literature NP1065710.RAHpc4-D9l4STYHnfaB5767yd5fb0ALo86HW_ZqjLWssY130_provenance.
- NP1065710.RAHpc4-D9l4STYHnfaB5767yd5fb0ALo86HW_ZqjLWssY130_assertion SIO_000772 23549421 NP1065710.RAHpc4-D9l4STYHnfaB5767yd5fb0ALo86HW_ZqjLWssY130_provenance.
- NP1065710.RAHpc4-D9l4STYHnfaB5767yd5fb0ALo86HW_ZqjLWssY130_assertion wasDerivedFrom befree-2016 NP1065710.RAHpc4-D9l4STYHnfaB5767yd5fb0ALo86HW_ZqjLWssY130_provenance.
- NP1065710.RAHpc4-D9l4STYHnfaB5767yd5fb0ALo86HW_ZqjLWssY130_assertion wasGeneratedBy ECO_0000203 NP1065710.RAHpc4-D9l4STYHnfaB5767yd5fb0ALo86HW_ZqjLWssY130_provenance.
- befree-2016 importedOn "2016-02-19" NP1065710.RAHpc4-D9l4STYHnfaB5767yd5fb0ALo86HW_ZqjLWssY130_provenance.