About: Deletion Mutation

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An Entity of Type : owl:Class, within Data Space : linked.opendata.cz:8890 associated with source document(s)

Attributes	Values
rdf:type	Class
rdfs:label	Deletion Mutation
rdfs:subClassOf	Mutation Abnormality
Semantic_Type	Cell or Molecular Dysfunction
Preferred_Name	Deletion Mutation
UMLS_CUI	C1511760
ALT_DEFINITION	Absence of a segment of DNA; may be as small as a single base or as large as a whole chromosome.NCI-GLOSS
Legacy_Concept_Name	Deletion_Mutation
FULL_SYN	Deletion MutationSYNCITCGA Deletion MutationPTNCI Mutation, DeletionSYNCI deletionPTNCI-GLOSSCDR0000460141 DeletionSYNCI Deletion AbnormalitySYNCI
DEFINITION	Any rearrangement to the genomic content that results in the loss of one or more nucleotides of DNA. Deletions are generally irreversible rearrangements. They may alter the reading frame of a gene, or may result in loss of large chromosomal regions.NCI
code	C19296
http://linked.open...y/mesh/hasConcept	http://linked.opendata.cz/resource/mesh/concept/M0506879
is rdfs:subClassOf of	Gene Deletion
is someValuesFrom of	nodeID://b655860 nodeID://b655919 nodeID://b655944 nodeID://b655985 nodeID://b656006 nodeID://b656019 nodeID://b656065 nodeID://b656073 nodeID://b656122 nodeID://b656137 nodeID://b656222

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