Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1260358.RAdKQWQRR_UcmCQvjdYpgx4jwtiLqEHR5b6JD8DCN0Fsk130_assertion> ?p ?o ?g. }
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- NP1260358.RAdKQWQRR_UcmCQvjdYpgx4jwtiLqEHR5b6JD8DCN0Fsk130_assertion type Assertion NP1260358.RAdKQWQRR_UcmCQvjdYpgx4jwtiLqEHR5b6JD8DCN0Fsk130_head.
- NP1260358.RAdKQWQRR_UcmCQvjdYpgx4jwtiLqEHR5b6JD8DCN0Fsk130_assertion description "[MECP2 mutations cause the X-linked neurodevelopmental disorder Rett Syndrome (RTT) by consistently altering the protein encoded by the MECP2e1 alternative transcript.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1260358.RAdKQWQRR_UcmCQvjdYpgx4jwtiLqEHR5b6JD8DCN0Fsk130_provenance.
- NP1260358.RAdKQWQRR_UcmCQvjdYpgx4jwtiLqEHR5b6JD8DCN0Fsk130_assertion evidence source_evidence_literature NP1260358.RAdKQWQRR_UcmCQvjdYpgx4jwtiLqEHR5b6JD8DCN0Fsk130_provenance.
- NP1260358.RAdKQWQRR_UcmCQvjdYpgx4jwtiLqEHR5b6JD8DCN0Fsk130_assertion SIO_000772 25644311 NP1260358.RAdKQWQRR_UcmCQvjdYpgx4jwtiLqEHR5b6JD8DCN0Fsk130_provenance.
- NP1260358.RAdKQWQRR_UcmCQvjdYpgx4jwtiLqEHR5b6JD8DCN0Fsk130_assertion wasDerivedFrom befree-2016 NP1260358.RAdKQWQRR_UcmCQvjdYpgx4jwtiLqEHR5b6JD8DCN0Fsk130_provenance.
- NP1260358.RAdKQWQRR_UcmCQvjdYpgx4jwtiLqEHR5b6JD8DCN0Fsk130_assertion wasGeneratedBy ECO_0000203 NP1260358.RAdKQWQRR_UcmCQvjdYpgx4jwtiLqEHR5b6JD8DCN0Fsk130_provenance.