DESCRIBE <http://purl.uniprot.org/SHA-384/82775171034C84CC83AC46BCBF34B76D376E9A5FCA9E7C9D90AB141A6131728E39DE4292E8B398AC139EECAD66662CC8>

Subject	Predicate	Object
http://purl.uniprot.org/SHA-384/82775171034C84CC83AC46BCBF34B76D376E9A5FCA9E7C9D90AB141A6131728E39DE4292E8B398AC139EECAD66662CC8	http://www.w3.org/1999/02/22-rdf-syntax-ns#type	http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/82775171034C84CC83AC46BCBF34B76D376E9A5FCA9E7C9D90AB141A6131728E39DE4292E8B398AC139EECAD66662CC8	http://www.w3.org/2000/01/rdf-schema#comment	"we describe an individual with a sporadic atypical spinal muscular atrophy in whom clinical DNA sequencing reported one pathogenic ASAH1 mutation .Transcriptome sequencing on patient leukocytes identified a highly significant and atypical ASAH1 isoform not explained by c.458A>G(p<10(-16) )."xsd:string
http://purl.uniprot.org/uniprot/#_F91FD6C68453D54E6D42B373BFA89C2ECA787E75235839D44D1A5DD51CF00FDE175E282086232A8D887EBCB73BB81C12	http://www.w3.org/1999/02/22-rdf-syntax-ns#subject	http://purl.uniprot.org/SHA-384/82775171034C84CC83AC46BCBF34B76D376E9A5FCA9E7C9D90AB141A6131728E39DE4292E8B398AC139EECAD66662CC8
http://purl.uniprot.org/uniprot/B1B5Q0	http://purl.uniprot.org/core/mappedAnnotation	http://purl.uniprot.org/SHA-384/82775171034C84CC83AC46BCBF34B76D376E9A5FCA9E7C9D90AB141A6131728E39DE4292E8B398AC139EECAD66662CC8
http://purl.uniprot.org/uniprot/#_B1B5Q0-mappedCitation-28251733	http://purl.uniprot.org/core/mappedAnnotation	http://purl.uniprot.org/SHA-384/82775171034C84CC83AC46BCBF34B76D376E9A5FCA9E7C9D90AB141A6131728E39DE4292E8B398AC139EECAD66662CC8