Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1128214.RAvxRT4dh07IPvMPpITI8L7bMRUKhEUr9xC1zsGemIT_c130_assertion> ?p ?o ?g. }
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- NP1128214.RAvxRT4dh07IPvMPpITI8L7bMRUKhEUr9xC1zsGemIT_c130_assertion type Assertion NP1128214.RAvxRT4dh07IPvMPpITI8L7bMRUKhEUr9xC1zsGemIT_c130_head.
- NP1128214.RAvxRT4dh07IPvMPpITI8L7bMRUKhEUr9xC1zsGemIT_c130_assertion description "[Although null mutations of ARX in human patients result in the severe neurologic syndrome XLAG (X-linked lissencephaly associated with abnormal genitalia), the most common mutation is the expansion of the first polyalanine tract of ARX, which results primarily in the clinical syndrome ISSX (infantile spasms).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1128214.RAvxRT4dh07IPvMPpITI8L7bMRUKhEUr9xC1zsGemIT_c130_provenance.
- NP1128214.RAvxRT4dh07IPvMPpITI8L7bMRUKhEUr9xC1zsGemIT_c130_assertion evidence source_evidence_literature NP1128214.RAvxRT4dh07IPvMPpITI8L7bMRUKhEUr9xC1zsGemIT_c130_provenance.
- NP1128214.RAvxRT4dh07IPvMPpITI8L7bMRUKhEUr9xC1zsGemIT_c130_assertion SIO_000772 24236044 NP1128214.RAvxRT4dh07IPvMPpITI8L7bMRUKhEUr9xC1zsGemIT_c130_provenance.
- NP1128214.RAvxRT4dh07IPvMPpITI8L7bMRUKhEUr9xC1zsGemIT_c130_assertion wasDerivedFrom befree-2016 NP1128214.RAvxRT4dh07IPvMPpITI8L7bMRUKhEUr9xC1zsGemIT_c130_provenance.
- NP1128214.RAvxRT4dh07IPvMPpITI8L7bMRUKhEUr9xC1zsGemIT_c130_assertion wasGeneratedBy ECO_0000203 NP1128214.RAvxRT4dh07IPvMPpITI8L7bMRUKhEUr9xC1zsGemIT_c130_provenance.