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- source_evidence_literature type ECO_0000212 NP704561.RAlcU5Emz2eDaNv3aclK6C5w-YiQoujV7QGQ4JaqRhgrY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP704561.RAlcU5Emz2eDaNv3aclK6C5w-YiQoujV7QGQ4JaqRhgrY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP704561.RAlcU5Emz2eDaNv3aclK6C5w-YiQoujV7QGQ4JaqRhgrY130_provenance.
- NP704561.RAlcU5Emz2eDaNv3aclK6C5w-YiQoujV7QGQ4JaqRhgrY130_assertion description "[Allelic mutations in each of these genes can result in a wide spectrum of clinical conditions, ranging from severe congenital onset with associated structural brain malformations (Walker Warburg syndrome; muscle-eye-brain disease; Fukuyama muscular dystrophy; congenital muscular dystrophy type 1D) to a relatively milder congenital variant with no brain involvement (congenital muscular dystrophy type 1C), and to limb-girdle muscular dystrophy (LGMD) type 2 variants with onset in childhood or adult life (LGMD2I, LGMD2L, and LGMD2N).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP704561.RAlcU5Emz2eDaNv3aclK6C5w-YiQoujV7QGQ4JaqRhgrY130_provenance.
- NP704561.RAlcU5Emz2eDaNv3aclK6C5w-YiQoujV7QGQ4JaqRhgrY130_assertion evidence source_evidence_literature NP704561.RAlcU5Emz2eDaNv3aclK6C5w-YiQoujV7QGQ4JaqRhgrY130_provenance.
- NP704561.RAlcU5Emz2eDaNv3aclK6C5w-YiQoujV7QGQ4JaqRhgrY130_assertion SIO_000772 19019316 NP704561.RAlcU5Emz2eDaNv3aclK6C5w-YiQoujV7QGQ4JaqRhgrY130_provenance.
- NP704561.RAlcU5Emz2eDaNv3aclK6C5w-YiQoujV7QGQ4JaqRhgrY130_assertion wasDerivedFrom befree-2016 NP704561.RAlcU5Emz2eDaNv3aclK6C5w-YiQoujV7QGQ4JaqRhgrY130_provenance.
- NP704561.RAlcU5Emz2eDaNv3aclK6C5w-YiQoujV7QGQ4JaqRhgrY130_assertion wasGeneratedBy ECO_0000203 NP704561.RAlcU5Emz2eDaNv3aclK6C5w-YiQoujV7QGQ4JaqRhgrY130_provenance.
- befree-2016 importedOn "2016-02-19" NP704561.RAlcU5Emz2eDaNv3aclK6C5w-YiQoujV7QGQ4JaqRhgrY130_provenance.