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- source_evidence_literature type ECO_0000212 NP798727.RAYVeJgPUPNC1u8qm3ZC6xYUNVZ2h4Jk2M-aKcOziN730130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP798727.RAYVeJgPUPNC1u8qm3ZC6xYUNVZ2h4Jk2M-aKcOziN730130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP798727.RAYVeJgPUPNC1u8qm3ZC6xYUNVZ2h4Jk2M-aKcOziN730130_provenance.
- NP798727.RAYVeJgPUPNC1u8qm3ZC6xYUNVZ2h4Jk2M-aKcOziN730130_assertion description "[Heterozygous mutations in the CASK gene in Xp11.4 have been shown to be associated with a distinct brain malformation phenotype in females, including disproportionate pontine and cerebellar hypoplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP798727.RAYVeJgPUPNC1u8qm3ZC6xYUNVZ2h4Jk2M-aKcOziN730130_provenance.
- NP798727.RAYVeJgPUPNC1u8qm3ZC6xYUNVZ2h4Jk2M-aKcOziN730130_assertion evidence source_evidence_literature NP798727.RAYVeJgPUPNC1u8qm3ZC6xYUNVZ2h4Jk2M-aKcOziN730130_provenance.
- NP798727.RAYVeJgPUPNC1u8qm3ZC6xYUNVZ2h4Jk2M-aKcOziN730130_assertion SIO_000772 21954287 NP798727.RAYVeJgPUPNC1u8qm3ZC6xYUNVZ2h4Jk2M-aKcOziN730130_provenance.
- NP798727.RAYVeJgPUPNC1u8qm3ZC6xYUNVZ2h4Jk2M-aKcOziN730130_assertion wasDerivedFrom befree-20150227 NP798727.RAYVeJgPUPNC1u8qm3ZC6xYUNVZ2h4Jk2M-aKcOziN730130_provenance.
- NP798727.RAYVeJgPUPNC1u8qm3ZC6xYUNVZ2h4Jk2M-aKcOziN730130_assertion wasGeneratedBy ECO_0000203 NP798727.RAYVeJgPUPNC1u8qm3ZC6xYUNVZ2h4Jk2M-aKcOziN730130_provenance.
- befree-20150227 importedOn "2015-02-27" NP798727.RAYVeJgPUPNC1u8qm3ZC6xYUNVZ2h4Jk2M-aKcOziN730130_provenance.