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- source_evidence_literature type ECO_0000212 NP167624.RAjT675-e3F7l-VfFZ37DjCRqX4yuMdN9V4s1f5nEhYas130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP167624.RAjT675-e3F7l-VfFZ37DjCRqX4yuMdN9V4s1f5nEhYas130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP167624.RAjT675-e3F7l-VfFZ37DjCRqX4yuMdN9V4s1f5nEhYas130_provenance.
- NP167624.RAjT675-e3F7l-VfFZ37DjCRqX4yuMdN9V4s1f5nEhYas130_assertion description "[Our findings suggest that increased serum FSH levels in subjects with primary amenorrhea correlated to FSHR genotype at position -29. We identified a novel homozygous mutation C(1723)T (Ala(575)Val) in a woman with primary amenorrhea.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP167624.RAjT675-e3F7l-VfFZ37DjCRqX4yuMdN9V4s1f5nEhYas130_provenance.
- NP167624.RAjT675-e3F7l-VfFZ37DjCRqX4yuMdN9V4s1f5nEhYas130_assertion evidence source_evidence_literature NP167624.RAjT675-e3F7l-VfFZ37DjCRqX4yuMdN9V4s1f5nEhYas130_provenance.
- NP167624.RAjT675-e3F7l-VfFZ37DjCRqX4yuMdN9V4s1f5nEhYas130_assertion SIO_000772 20237833 NP167624.RAjT675-e3F7l-VfFZ37DjCRqX4yuMdN9V4s1f5nEhYas130_provenance.
- NP167624.RAjT675-e3F7l-VfFZ37DjCRqX4yuMdN9V4s1f5nEhYas130_assertion wasDerivedFrom gad-20150221 NP167624.RAjT675-e3F7l-VfFZ37DjCRqX4yuMdN9V4s1f5nEhYas130_provenance.
- NP167624.RAjT675-e3F7l-VfFZ37DjCRqX4yuMdN9V4s1f5nEhYas130_assertion wasGeneratedBy ECO_0000203 NP167624.RAjT675-e3F7l-VfFZ37DjCRqX4yuMdN9V4s1f5nEhYas130_provenance.
- gad-20150221 importedOn "2015-02-21" NP167624.RAjT675-e3F7l-VfFZ37DjCRqX4yuMdN9V4s1f5nEhYas130_provenance.