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- source_evidence_literature type ECO_0000212 NP1393542.RAJypUs-8UftlTyT9iDjcOun0aNWVmtrjjk6PE2xOH3gA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1393542.RAJypUs-8UftlTyT9iDjcOun0aNWVmtrjjk6PE2xOH3gA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1393542.RAJypUs-8UftlTyT9iDjcOun0aNWVmtrjjk6PE2xOH3gA130_provenance.
- NP1393542.RAJypUs-8UftlTyT9iDjcOun0aNWVmtrjjk6PE2xOH3gA130_assertion description "[A novel single basepair insertion in exon 6 of the Bruton's tyrosine kinase (Btk) gene from a Japanese X-linked agammaglobulinemia patient with growth hormone insufficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1393542.RAJypUs-8UftlTyT9iDjcOun0aNWVmtrjjk6PE2xOH3gA130_provenance.
- NP1393542.RAJypUs-8UftlTyT9iDjcOun0aNWVmtrjjk6PE2xOH3gA130_assertion evidence source_evidence_literature NP1393542.RAJypUs-8UftlTyT9iDjcOun0aNWVmtrjjk6PE2xOH3gA130_provenance.
- NP1393542.RAJypUs-8UftlTyT9iDjcOun0aNWVmtrjjk6PE2xOH3gA130_assertion SIO_000772 9554752 NP1393542.RAJypUs-8UftlTyT9iDjcOun0aNWVmtrjjk6PE2xOH3gA130_provenance.
- NP1393542.RAJypUs-8UftlTyT9iDjcOun0aNWVmtrjjk6PE2xOH3gA130_assertion wasDerivedFrom befree-2016 NP1393542.RAJypUs-8UftlTyT9iDjcOun0aNWVmtrjjk6PE2xOH3gA130_provenance.
- NP1393542.RAJypUs-8UftlTyT9iDjcOun0aNWVmtrjjk6PE2xOH3gA130_assertion wasGeneratedBy ECO_0000203 NP1393542.RAJypUs-8UftlTyT9iDjcOun0aNWVmtrjjk6PE2xOH3gA130_provenance.
- befree-2016 importedOn "2016-02-19" NP1393542.RAJypUs-8UftlTyT9iDjcOun0aNWVmtrjjk6PE2xOH3gA130_provenance.