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- source_evidence_literature type ECO_0000212 NP703008.RAjkiEUfY0g2ouqDgj4Z0Prc_d1UYHz128O-S6Bzo0NbM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP703008.RAjkiEUfY0g2ouqDgj4Z0Prc_d1UYHz128O-S6Bzo0NbM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP703008.RAjkiEUfY0g2ouqDgj4Z0Prc_d1UYHz128O-S6Bzo0NbM130_provenance.
- NP703008.RAjkiEUfY0g2ouqDgj4Z0Prc_d1UYHz128O-S6Bzo0NbM130_assertion wasGeneratedBy ECO_0000203 NP703008.RAjkiEUfY0g2ouqDgj4Z0Prc_d1UYHz128O-S6Bzo0NbM130_provenance.
- NP703008.RAjkiEUfY0g2ouqDgj4Z0Prc_d1UYHz128O-S6Bzo0NbM130_assertion wasDerivedFrom befree-20140225 NP703008.RAjkiEUfY0g2ouqDgj4Z0Prc_d1UYHz128O-S6Bzo0NbM130_provenance.
- NP703008.RAjkiEUfY0g2ouqDgj4Z0Prc_d1UYHz128O-S6Bzo0NbM130_assertion SIO_000772 15347343 NP703008.RAjkiEUfY0g2ouqDgj4Z0Prc_d1UYHz128O-S6Bzo0NbM130_provenance.
- NP703008.RAjkiEUfY0g2ouqDgj4Z0Prc_d1UYHz128O-S6Bzo0NbM130_assertion evidence source_evidence_literature NP703008.RAjkiEUfY0g2ouqDgj4Z0Prc_d1UYHz128O-S6Bzo0NbM130_provenance.
- NP703008.RAjkiEUfY0g2ouqDgj4Z0Prc_d1UYHz128O-S6Bzo0NbM130_assertion description "[A previously undescribed missense mutation was detected in the L12 domain of keratin 5 (K5) in a Chinese family with Weber-Cockayne epidermolysis bullosa simplex.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP703008.RAjkiEUfY0g2ouqDgj4Z0Prc_d1UYHz128O-S6Bzo0NbM130_provenance.
- befree-20140225 importedOn "2014-02-25" NP703008.RAjkiEUfY0g2ouqDgj4Z0Prc_d1UYHz128O-S6Bzo0NbM130_provenance.