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- NP1314551.RAK84BkZIMq1RlIuS3Q5cbDrtBWILDcitB9xaiYME8mDM130_assertion type Assertion NP1314551.RAK84BkZIMq1RlIuS3Q5cbDrtBWILDcitB9xaiYME8mDM130_head.
- NP1314551.RAK84BkZIMq1RlIuS3Q5cbDrtBWILDcitB9xaiYME8mDM130_assertion description "[Three new missense mutations (H15D, A83D, and A179D) and a new splicing defect (573 + IG-->A) in the 5' splice site of intron 5 were among six mutant adenosine deaminase (ADA) alleles found in three unrelated patients with severe combined immunodeficiency disease, the most common phenotype associated with ADA deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1314551.RAK84BkZIMq1RlIuS3Q5cbDrtBWILDcitB9xaiYME8mDM130_provenance.
- NP1314551.RAK84BkZIMq1RlIuS3Q5cbDrtBWILDcitB9xaiYME8mDM130_assertion evidence source_evidence_literature NP1314551.RAK84BkZIMq1RlIuS3Q5cbDrtBWILDcitB9xaiYME8mDM130_provenance.
- NP1314551.RAK84BkZIMq1RlIuS3Q5cbDrtBWILDcitB9xaiYME8mDM130_assertion SIO_000772 7599635 NP1314551.RAK84BkZIMq1RlIuS3Q5cbDrtBWILDcitB9xaiYME8mDM130_provenance.
- NP1314551.RAK84BkZIMq1RlIuS3Q5cbDrtBWILDcitB9xaiYME8mDM130_assertion wasDerivedFrom befree-2016 NP1314551.RAK84BkZIMq1RlIuS3Q5cbDrtBWILDcitB9xaiYME8mDM130_provenance.
- NP1314551.RAK84BkZIMq1RlIuS3Q5cbDrtBWILDcitB9xaiYME8mDM130_assertion wasGeneratedBy ECO_0000203 NP1314551.RAK84BkZIMq1RlIuS3Q5cbDrtBWILDcitB9xaiYME8mDM130_provenance.