Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP847149.RAW8305USGZL1ykYF6fmoEFONL3tM-F7wd9FMrHV0ii0E130_assertion> ?p ?o ?g. }
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- NP847149.RAW8305USGZL1ykYF6fmoEFONL3tM-F7wd9FMrHV0ii0E130_assertion type Assertion NP847149.RAW8305USGZL1ykYF6fmoEFONL3tM-F7wd9FMrHV0ii0E130_head.
- NP847149.RAW8305USGZL1ykYF6fmoEFONL3tM-F7wd9FMrHV0ii0E130_assertion description "[While TPM2 mutations identified so far in muscular diseases were all associated with a dominant inheritance pattern, we report the identification of a homozygous null allele mutation in the TPM2 gene in a patient who presented with a recessive form of nemaline myopathy associated with a non-lethal multiple pterygium syndrome (Escobar-MPS MIM# 265000).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP847149.RAW8305USGZL1ykYF6fmoEFONL3tM-F7wd9FMrHV0ii0E130_provenance.
- NP847149.RAW8305USGZL1ykYF6fmoEFONL3tM-F7wd9FMrHV0ii0E130_assertion evidence source_evidence_literature NP847149.RAW8305USGZL1ykYF6fmoEFONL3tM-F7wd9FMrHV0ii0E130_provenance.
- NP847149.RAW8305USGZL1ykYF6fmoEFONL3tM-F7wd9FMrHV0ii0E130_assertion SIO_000772 19155175 NP847149.RAW8305USGZL1ykYF6fmoEFONL3tM-F7wd9FMrHV0ii0E130_provenance.
- NP847149.RAW8305USGZL1ykYF6fmoEFONL3tM-F7wd9FMrHV0ii0E130_assertion wasDerivedFrom befree-20140225 NP847149.RAW8305USGZL1ykYF6fmoEFONL3tM-F7wd9FMrHV0ii0E130_provenance.
- NP847149.RAW8305USGZL1ykYF6fmoEFONL3tM-F7wd9FMrHV0ii0E130_assertion wasGeneratedBy ECO_0000203 NP847149.RAW8305USGZL1ykYF6fmoEFONL3tM-F7wd9FMrHV0ii0E130_provenance.