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- source_evidence_literature type ECO_0000212 NP961901.RAU1W5wl5u9hTNW6IE1lbeqe52Iv_V9FSeOuHKgkHowdY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP961901.RAU1W5wl5u9hTNW6IE1lbeqe52Iv_V9FSeOuHKgkHowdY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP961901.RAU1W5wl5u9hTNW6IE1lbeqe52Iv_V9FSeOuHKgkHowdY130_provenance.
- NP961901.RAU1W5wl5u9hTNW6IE1lbeqe52Iv_V9FSeOuHKgkHowdY130_assertion description "[Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP961901.RAU1W5wl5u9hTNW6IE1lbeqe52Iv_V9FSeOuHKgkHowdY130_provenance.
- NP961901.RAU1W5wl5u9hTNW6IE1lbeqe52Iv_V9FSeOuHKgkHowdY130_assertion evidence source_evidence_literature NP961901.RAU1W5wl5u9hTNW6IE1lbeqe52Iv_V9FSeOuHKgkHowdY130_provenance.
- NP961901.RAU1W5wl5u9hTNW6IE1lbeqe52Iv_V9FSeOuHKgkHowdY130_assertion SIO_000772 21677667 NP961901.RAU1W5wl5u9hTNW6IE1lbeqe52Iv_V9FSeOuHKgkHowdY130_provenance.
- NP961901.RAU1W5wl5u9hTNW6IE1lbeqe52Iv_V9FSeOuHKgkHowdY130_assertion wasDerivedFrom befree-20150227 NP961901.RAU1W5wl5u9hTNW6IE1lbeqe52Iv_V9FSeOuHKgkHowdY130_provenance.
- NP961901.RAU1W5wl5u9hTNW6IE1lbeqe52Iv_V9FSeOuHKgkHowdY130_assertion wasGeneratedBy ECO_0000203 NP961901.RAU1W5wl5u9hTNW6IE1lbeqe52Iv_V9FSeOuHKgkHowdY130_provenance.
- befree-20150227 importedOn "2015-02-27" NP961901.RAU1W5wl5u9hTNW6IE1lbeqe52Iv_V9FSeOuHKgkHowdY130_provenance.