Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP228675.RA-NeV6scR9LVj6kNnHe6pmqhjS-f10xRv5IQc8bGShcY130_assertion> ?p ?o ?g. }
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- NP228675.RA-NeV6scR9LVj6kNnHe6pmqhjS-f10xRv5IQc8bGShcY130_assertion type Assertion NP228675.RA-NeV6scR9LVj6kNnHe6pmqhjS-f10xRv5IQc8bGShcY130_head.
- NP228675.RA-NeV6scR9LVj6kNnHe6pmqhjS-f10xRv5IQc8bGShcY130_assertion description "[Mutations in SLC26A4 cause nonsyndromic hearing loss associated with an enlarged vestibular aqueduct (EVA, also known as DFNB4) and Pendred syndrome (PS), the most common type of autosomal-recessive syndromic deafness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP228675.RA-NeV6scR9LVj6kNnHe6pmqhjS-f10xRv5IQc8bGShcY130_provenance.
- NP228675.RA-NeV6scR9LVj6kNnHe6pmqhjS-f10xRv5IQc8bGShcY130_assertion evidence source_evidence_literature NP228675.RA-NeV6scR9LVj6kNnHe6pmqhjS-f10xRv5IQc8bGShcY130_provenance.
- NP228675.RA-NeV6scR9LVj6kNnHe6pmqhjS-f10xRv5IQc8bGShcY130_assertion SIO_000772 19426954 NP228675.RA-NeV6scR9LVj6kNnHe6pmqhjS-f10xRv5IQc8bGShcY130_provenance.
- NP228675.RA-NeV6scR9LVj6kNnHe6pmqhjS-f10xRv5IQc8bGShcY130_assertion wasDerivedFrom befree-20140225 NP228675.RA-NeV6scR9LVj6kNnHe6pmqhjS-f10xRv5IQc8bGShcY130_provenance.
- NP228675.RA-NeV6scR9LVj6kNnHe6pmqhjS-f10xRv5IQc8bGShcY130_assertion wasGeneratedBy ECO_0000203 NP228675.RA-NeV6scR9LVj6kNnHe6pmqhjS-f10xRv5IQc8bGShcY130_provenance.