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- source_evidence_literature type ECO_0000212 NP922146.RAtTYDamCrY44pe2EHhFqbn4Y7GQ7Tpm8NL8Akln_cfAc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP922146.RAtTYDamCrY44pe2EHhFqbn4Y7GQ7Tpm8NL8Akln_cfAc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP922146.RAtTYDamCrY44pe2EHhFqbn4Y7GQ7Tpm8NL8Akln_cfAc130_provenance.
- NP922146.RAtTYDamCrY44pe2EHhFqbn4Y7GQ7Tpm8NL8Akln_cfAc130_assertion description "[A novel microduplication syndrome involving various-sized contiguous duplications in 17p13.3 has recently been described, suggesting that increased copy number of genes in 17p13.3, particularly PAFAH1B1, is associated with clinical features including facial dysmorphism, developmental delay, and autism spectrum disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP922146.RAtTYDamCrY44pe2EHhFqbn4Y7GQ7Tpm8NL8Akln_cfAc130_provenance.
- NP922146.RAtTYDamCrY44pe2EHhFqbn4Y7GQ7Tpm8NL8Akln_cfAc130_assertion evidence source_evidence_literature NP922146.RAtTYDamCrY44pe2EHhFqbn4Y7GQ7Tpm8NL8Akln_cfAc130_provenance.
- NP922146.RAtTYDamCrY44pe2EHhFqbn4Y7GQ7Tpm8NL8Akln_cfAc130_assertion SIO_000772 21901111 NP922146.RAtTYDamCrY44pe2EHhFqbn4Y7GQ7Tpm8NL8Akln_cfAc130_provenance.
- NP922146.RAtTYDamCrY44pe2EHhFqbn4Y7GQ7Tpm8NL8Akln_cfAc130_assertion wasDerivedFrom befree-2016 NP922146.RAtTYDamCrY44pe2EHhFqbn4Y7GQ7Tpm8NL8Akln_cfAc130_provenance.
- NP922146.RAtTYDamCrY44pe2EHhFqbn4Y7GQ7Tpm8NL8Akln_cfAc130_assertion wasGeneratedBy ECO_0000203 NP922146.RAtTYDamCrY44pe2EHhFqbn4Y7GQ7Tpm8NL8Akln_cfAc130_provenance.
- befree-2016 importedOn "2016-02-19" NP922146.RAtTYDamCrY44pe2EHhFqbn4Y7GQ7Tpm8NL8Akln_cfAc130_provenance.