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- source_evidence_literature type ECO_0000212 NP800767.RAYiLhYKSPGyQ_VntpT13vGHrqLZwzor7Aoft_LUvoGlA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP800767.RAYiLhYKSPGyQ_VntpT13vGHrqLZwzor7Aoft_LUvoGlA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP800767.RAYiLhYKSPGyQ_VntpT13vGHrqLZwzor7Aoft_LUvoGlA130_provenance.
- NP800767.RAYiLhYKSPGyQ_VntpT13vGHrqLZwzor7Aoft_LUvoGlA130_assertion description "[We have characterized the point mutation responsible for an AMH-negative PMDS in three siblings: a guanine to thymine transversion at position 2096 in the fifth exon changes a GAA triplet, coding for glutamic acid, to a TAA stop codon.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP800767.RAYiLhYKSPGyQ_VntpT13vGHrqLZwzor7Aoft_LUvoGlA130_provenance.
- NP800767.RAYiLhYKSPGyQ_VntpT13vGHrqLZwzor7Aoft_LUvoGlA130_assertion evidence source_evidence_literature NP800767.RAYiLhYKSPGyQ_VntpT13vGHrqLZwzor7Aoft_LUvoGlA130_provenance.
- NP800767.RAYiLhYKSPGyQ_VntpT13vGHrqLZwzor7Aoft_LUvoGlA130_assertion SIO_000772 2023927 NP800767.RAYiLhYKSPGyQ_VntpT13vGHrqLZwzor7Aoft_LUvoGlA130_provenance.
- NP800767.RAYiLhYKSPGyQ_VntpT13vGHrqLZwzor7Aoft_LUvoGlA130_assertion wasDerivedFrom befree-2016 NP800767.RAYiLhYKSPGyQ_VntpT13vGHrqLZwzor7Aoft_LUvoGlA130_provenance.
- NP800767.RAYiLhYKSPGyQ_VntpT13vGHrqLZwzor7Aoft_LUvoGlA130_assertion wasGeneratedBy ECO_0000203 NP800767.RAYiLhYKSPGyQ_VntpT13vGHrqLZwzor7Aoft_LUvoGlA130_provenance.
- befree-2016 importedOn "2016-02-19" NP800767.RAYiLhYKSPGyQ_VntpT13vGHrqLZwzor7Aoft_LUvoGlA130_provenance.