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- source_evidence_literature type ECO_0000212 NP626090.RAK9DNA7vxFQgN2Mh6vWm-NIwBT7vK2M1M2gK-Qrlp_Lk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP626090.RAK9DNA7vxFQgN2Mh6vWm-NIwBT7vK2M1M2gK-Qrlp_Lk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP626090.RAK9DNA7vxFQgN2Mh6vWm-NIwBT7vK2M1M2gK-Qrlp_Lk130_provenance.
- NP626090.RAK9DNA7vxFQgN2Mh6vWm-NIwBT7vK2M1M2gK-Qrlp_Lk130_assertion description "[In addition to the normal 68 kDa tropoelastin (TE) protein, an abnormal, 120 kDa polypeptide was detected in the proband and her affected daughter in a CL family characterized by hernias and unusually severe and early-onset pulmonary disease including bronchiectasis and pulmonary emphysema.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP626090.RAK9DNA7vxFQgN2Mh6vWm-NIwBT7vK2M1M2gK-Qrlp_Lk130_provenance.
- NP626090.RAK9DNA7vxFQgN2Mh6vWm-NIwBT7vK2M1M2gK-Qrlp_Lk130_assertion evidence source_evidence_literature NP626090.RAK9DNA7vxFQgN2Mh6vWm-NIwBT7vK2M1M2gK-Qrlp_Lk130_provenance.
- NP626090.RAK9DNA7vxFQgN2Mh6vWm-NIwBT7vK2M1M2gK-Qrlp_Lk130_assertion SIO_000772 15955094 NP626090.RAK9DNA7vxFQgN2Mh6vWm-NIwBT7vK2M1M2gK-Qrlp_Lk130_provenance.
- NP626090.RAK9DNA7vxFQgN2Mh6vWm-NIwBT7vK2M1M2gK-Qrlp_Lk130_assertion wasDerivedFrom befree-20140225 NP626090.RAK9DNA7vxFQgN2Mh6vWm-NIwBT7vK2M1M2gK-Qrlp_Lk130_provenance.
- NP626090.RAK9DNA7vxFQgN2Mh6vWm-NIwBT7vK2M1M2gK-Qrlp_Lk130_assertion wasGeneratedBy ECO_0000203 NP626090.RAK9DNA7vxFQgN2Mh6vWm-NIwBT7vK2M1M2gK-Qrlp_Lk130_provenance.
- befree-20140225 importedOn "2014-02-25" NP626090.RAK9DNA7vxFQgN2Mh6vWm-NIwBT7vK2M1M2gK-Qrlp_Lk130_provenance.