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- source_evidence_literature type ECO_0000212 NP343173.RAwkdIO7cFssDwJ9mOaD_n_S5qPDJ0D5780MWnwJ4Y2to130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP343173.RAwkdIO7cFssDwJ9mOaD_n_S5qPDJ0D5780MWnwJ4Y2to130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP343173.RAwkdIO7cFssDwJ9mOaD_n_S5qPDJ0D5780MWnwJ4Y2to130_provenance.
- NP343173.RAwkdIO7cFssDwJ9mOaD_n_S5qPDJ0D5780MWnwJ4Y2to130_assertion description "[We conclude that the nature of the amino acid substitution at position 218 of the Nf of GATA1 is of crucial importance in determining the severity of the phenotype in X-linked macrothrombocytopenia patients and possibly also in inducing skewed X inactivation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP343173.RAwkdIO7cFssDwJ9mOaD_n_S5qPDJ0D5780MWnwJ4Y2to130_provenance.
- NP343173.RAwkdIO7cFssDwJ9mOaD_n_S5qPDJ0D5780MWnwJ4Y2to130_assertion evidence source_evidence_literature NP343173.RAwkdIO7cFssDwJ9mOaD_n_S5qPDJ0D5780MWnwJ4Y2to130_provenance.
- NP343173.RAwkdIO7cFssDwJ9mOaD_n_S5qPDJ0D5780MWnwJ4Y2to130_assertion SIO_000772 11809723 NP343173.RAwkdIO7cFssDwJ9mOaD_n_S5qPDJ0D5780MWnwJ4Y2to130_provenance.
- NP343173.RAwkdIO7cFssDwJ9mOaD_n_S5qPDJ0D5780MWnwJ4Y2to130_assertion wasDerivedFrom befree-2016 NP343173.RAwkdIO7cFssDwJ9mOaD_n_S5qPDJ0D5780MWnwJ4Y2to130_provenance.
- NP343173.RAwkdIO7cFssDwJ9mOaD_n_S5qPDJ0D5780MWnwJ4Y2to130_assertion wasGeneratedBy ECO_0000203 NP343173.RAwkdIO7cFssDwJ9mOaD_n_S5qPDJ0D5780MWnwJ4Y2to130_provenance.
- befree-2016 importedOn "2016-02-19" NP343173.RAwkdIO7cFssDwJ9mOaD_n_S5qPDJ0D5780MWnwJ4Y2to130_provenance.