Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP426281.RAk_mBpXjGqpphI_RM2koQK7s7xzyHuCc2tQWyLX9Rmgg130_assertion> ?p ?o ?g. }
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- NP426281.RAk_mBpXjGqpphI_RM2koQK7s7xzyHuCc2tQWyLX9Rmgg130_assertion type Assertion NP426281.RAk_mBpXjGqpphI_RM2koQK7s7xzyHuCc2tQWyLX9Rmgg130_head.
- NP426281.RAk_mBpXjGqpphI_RM2koQK7s7xzyHuCc2tQWyLX9Rmgg130_assertion wasGeneratedBy ECO_0000203 NP426281.RAk_mBpXjGqpphI_RM2koQK7s7xzyHuCc2tQWyLX9Rmgg130_provenance.
- NP426281.RAk_mBpXjGqpphI_RM2koQK7s7xzyHuCc2tQWyLX9Rmgg130_assertion wasDerivedFrom befree-20150227 NP426281.RAk_mBpXjGqpphI_RM2koQK7s7xzyHuCc2tQWyLX9Rmgg130_provenance.
- NP426281.RAk_mBpXjGqpphI_RM2koQK7s7xzyHuCc2tQWyLX9Rmgg130_assertion SIO_000772 19027966 NP426281.RAk_mBpXjGqpphI_RM2koQK7s7xzyHuCc2tQWyLX9Rmgg130_provenance.
- NP426281.RAk_mBpXjGqpphI_RM2koQK7s7xzyHuCc2tQWyLX9Rmgg130_assertion evidence source_evidence_literature NP426281.RAk_mBpXjGqpphI_RM2koQK7s7xzyHuCc2tQWyLX9Rmgg130_provenance.
- NP426281.RAk_mBpXjGqpphI_RM2koQK7s7xzyHuCc2tQWyLX9Rmgg130_assertion description "[One of these probands, however, is also homozygous for the 35delG mutation in the GJB2 gene and a second patient has Down syndrome, which is also associated with hearing impairment.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP426281.RAk_mBpXjGqpphI_RM2koQK7s7xzyHuCc2tQWyLX9Rmgg130_provenance.