Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1244477.RAN4wJYHOhYH71ZQ9stu_Shrpz61-k_CUzw6q5zYalDBE130_assertion> ?p ?o ?g. }
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- NP1244477.RAN4wJYHOhYH71ZQ9stu_Shrpz61-k_CUzw6q5zYalDBE130_assertion type Assertion NP1244477.RAN4wJYHOhYH71ZQ9stu_Shrpz61-k_CUzw6q5zYalDBE130_head.
- NP1244477.RAN4wJYHOhYH71ZQ9stu_Shrpz61-k_CUzw6q5zYalDBE130_assertion description "[A sural nerve biopsy disclosed amyloid deposits, which led to the identification of a rare heterozygous transthyretin mutation (p.Glu74Gly; old classification: p.Glu54Gly).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1244477.RAN4wJYHOhYH71ZQ9stu_Shrpz61-k_CUzw6q5zYalDBE130_provenance.
- NP1244477.RAN4wJYHOhYH71ZQ9stu_Shrpz61-k_CUzw6q5zYalDBE130_assertion evidence source_evidence_literature NP1244477.RAN4wJYHOhYH71ZQ9stu_Shrpz61-k_CUzw6q5zYalDBE130_provenance.
- NP1244477.RAN4wJYHOhYH71ZQ9stu_Shrpz61-k_CUzw6q5zYalDBE130_assertion SIO_000772 25471118 NP1244477.RAN4wJYHOhYH71ZQ9stu_Shrpz61-k_CUzw6q5zYalDBE130_provenance.
- NP1244477.RAN4wJYHOhYH71ZQ9stu_Shrpz61-k_CUzw6q5zYalDBE130_assertion wasDerivedFrom befree-2016 NP1244477.RAN4wJYHOhYH71ZQ9stu_Shrpz61-k_CUzw6q5zYalDBE130_provenance.
- NP1244477.RAN4wJYHOhYH71ZQ9stu_Shrpz61-k_CUzw6q5zYalDBE130_assertion wasGeneratedBy ECO_0000203 NP1244477.RAN4wJYHOhYH71ZQ9stu_Shrpz61-k_CUzw6q5zYalDBE130_provenance.