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- source_evidence_literature type ECO_0000212 NP255599.RACJx7wWPnYo1kzE_emKj2_k8JGGztMLw5clpcM3JnQ-o130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP255599.RACJx7wWPnYo1kzE_emKj2_k8JGGztMLw5clpcM3JnQ-o130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP255599.RACJx7wWPnYo1kzE_emKj2_k8JGGztMLw5clpcM3JnQ-o130_provenance.
- NP255599.RACJx7wWPnYo1kzE_emKj2_k8JGGztMLw5clpcM3JnQ-o130_assertion description "[We previously discovered a novel missense mutation (Lys650Met) in the tyrosine kinase domain of the fibroblast growth factor receptor 3 (FGFR3) gene in four unrelated individuals with a condition we called severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) [Tavormina et al., 1999: Am.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP255599.RACJx7wWPnYo1kzE_emKj2_k8JGGztMLw5clpcM3JnQ-o130_provenance.
- NP255599.RACJx7wWPnYo1kzE_emKj2_k8JGGztMLw5clpcM3JnQ-o130_assertion evidence source_evidence_literature NP255599.RACJx7wWPnYo1kzE_emKj2_k8JGGztMLw5clpcM3JnQ-o130_provenance.
- NP255599.RACJx7wWPnYo1kzE_emKj2_k8JGGztMLw5clpcM3JnQ-o130_assertion SIO_000772 10377013 NP255599.RACJx7wWPnYo1kzE_emKj2_k8JGGztMLw5clpcM3JnQ-o130_provenance.
- NP255599.RACJx7wWPnYo1kzE_emKj2_k8JGGztMLw5clpcM3JnQ-o130_assertion wasDerivedFrom befree-2016 NP255599.RACJx7wWPnYo1kzE_emKj2_k8JGGztMLw5clpcM3JnQ-o130_provenance.
- NP255599.RACJx7wWPnYo1kzE_emKj2_k8JGGztMLw5clpcM3JnQ-o130_assertion wasGeneratedBy ECO_0000203 NP255599.RACJx7wWPnYo1kzE_emKj2_k8JGGztMLw5clpcM3JnQ-o130_provenance.
- befree-2016 importedOn "2016-02-19" NP255599.RACJx7wWPnYo1kzE_emKj2_k8JGGztMLw5clpcM3JnQ-o130_provenance.