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- source_evidence_literature type ECO_0000212 NP917158.RApu_cItONG1vgCcg6WDh17D_-OYcvfljV6N7wk3sziBA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP917158.RApu_cItONG1vgCcg6WDh17D_-OYcvfljV6N7wk3sziBA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP917158.RApu_cItONG1vgCcg6WDh17D_-OYcvfljV6N7wk3sziBA130_provenance.
- NP917158.RApu_cItONG1vgCcg6WDh17D_-OYcvfljV6N7wk3sziBA130_assertion description "[Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP917158.RApu_cItONG1vgCcg6WDh17D_-OYcvfljV6N7wk3sziBA130_provenance.
- NP917158.RApu_cItONG1vgCcg6WDh17D_-OYcvfljV6N7wk3sziBA130_assertion evidence source_evidence_literature NP917158.RApu_cItONG1vgCcg6WDh17D_-OYcvfljV6N7wk3sziBA130_provenance.
- NP917158.RApu_cItONG1vgCcg6WDh17D_-OYcvfljV6N7wk3sziBA130_assertion SIO_000772 21842183 NP917158.RApu_cItONG1vgCcg6WDh17D_-OYcvfljV6N7wk3sziBA130_provenance.
- NP917158.RApu_cItONG1vgCcg6WDh17D_-OYcvfljV6N7wk3sziBA130_assertion wasDerivedFrom befree-2016 NP917158.RApu_cItONG1vgCcg6WDh17D_-OYcvfljV6N7wk3sziBA130_provenance.
- NP917158.RApu_cItONG1vgCcg6WDh17D_-OYcvfljV6N7wk3sziBA130_assertion wasGeneratedBy ECO_0000203 NP917158.RApu_cItONG1vgCcg6WDh17D_-OYcvfljV6N7wk3sziBA130_provenance.
- befree-2016 importedOn "2016-02-19" NP917158.RApu_cItONG1vgCcg6WDh17D_-OYcvfljV6N7wk3sziBA130_provenance.