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- NP704570.RANXU1tI-X8fv3Vh5QvHNi2wAqsf_JcwagbeLtyCgPoOg130_assertion type Assertion NP704570.RANXU1tI-X8fv3Vh5QvHNi2wAqsf_JcwagbeLtyCgPoOg130_head.
- NP704570.RANXU1tI-X8fv3Vh5QvHNi2wAqsf_JcwagbeLtyCgPoOg130_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." NP704570.RANXU1tI-X8fv3Vh5QvHNi2wAqsf_JcwagbeLtyCgPoOg130_provenance.
- NP704570.RANXU1tI-X8fv3Vh5QvHNi2wAqsf_JcwagbeLtyCgPoOg130_assertion evidence source_evidence_literature NP704570.RANXU1tI-X8fv3Vh5QvHNi2wAqsf_JcwagbeLtyCgPoOg130_provenance.
- NP704570.RANXU1tI-X8fv3Vh5QvHNi2wAqsf_JcwagbeLtyCgPoOg130_assertion SIO_000772 19019316 NP704570.RANXU1tI-X8fv3Vh5QvHNi2wAqsf_JcwagbeLtyCgPoOg130_provenance.
- NP704570.RANXU1tI-X8fv3Vh5QvHNi2wAqsf_JcwagbeLtyCgPoOg130_assertion wasDerivedFrom befree-2016 NP704570.RANXU1tI-X8fv3Vh5QvHNi2wAqsf_JcwagbeLtyCgPoOg130_provenance.
- NP704570.RANXU1tI-X8fv3Vh5QvHNi2wAqsf_JcwagbeLtyCgPoOg130_assertion wasGeneratedBy ECO_0000203 NP704570.RANXU1tI-X8fv3Vh5QvHNi2wAqsf_JcwagbeLtyCgPoOg130_provenance.