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- source_evidence_literature type ECO_0000212 NP1053266.RAfKvIltyznX7KRVIebEo80-rTN9aJy6E56XNcI-YXH64130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1053266.RAfKvIltyznX7KRVIebEo80-rTN9aJy6E56XNcI-YXH64130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1053266.RAfKvIltyznX7KRVIebEo80-rTN9aJy6E56XNcI-YXH64130_provenance.
- NP1053266.RAfKvIltyznX7KRVIebEo80-rTN9aJy6E56XNcI-YXH64130_assertion description "[Pseudohypoparathyroidism type Ia: a novel GNAS mutation in a Brazilian boy presenting with an early primary hypothyroidism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1053266.RAfKvIltyznX7KRVIebEo80-rTN9aJy6E56XNcI-YXH64130_provenance.
- NP1053266.RAfKvIltyznX7KRVIebEo80-rTN9aJy6E56XNcI-YXH64130_assertion evidence source_evidence_literature NP1053266.RAfKvIltyznX7KRVIebEo80-rTN9aJy6E56XNcI-YXH64130_provenance.
- NP1053266.RAfKvIltyznX7KRVIebEo80-rTN9aJy6E56XNcI-YXH64130_assertion SIO_000772 23412865 NP1053266.RAfKvIltyznX7KRVIebEo80-rTN9aJy6E56XNcI-YXH64130_provenance.
- NP1053266.RAfKvIltyznX7KRVIebEo80-rTN9aJy6E56XNcI-YXH64130_assertion wasDerivedFrom befree-2016 NP1053266.RAfKvIltyznX7KRVIebEo80-rTN9aJy6E56XNcI-YXH64130_provenance.
- NP1053266.RAfKvIltyznX7KRVIebEo80-rTN9aJy6E56XNcI-YXH64130_assertion wasGeneratedBy ECO_0000203 NP1053266.RAfKvIltyznX7KRVIebEo80-rTN9aJy6E56XNcI-YXH64130_provenance.
- befree-2016 importedOn "2016-02-19" NP1053266.RAfKvIltyznX7KRVIebEo80-rTN9aJy6E56XNcI-YXH64130_provenance.