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Abnormal nucleotide base sequence
Molecular Genetic Variation
Any alteration in the inherited nucleic acid sequence of the genotype of an organism. [from NCI]
Inversions, Sequence
The deletion and reinsertion of a segment of a nucleic acid sequence in the same place, but flipped in an opposite orientation. [from MeSH]
Positive bloodstream nucleic acid pathogen test
Positive (abnormal) result of a test such as polymerase chain reaction that is targeted against a nucleic acid sequence specific for a pathogen. [from HPO]
Gene Abnormality
A variation in or modification of the nucleic acid sequence of a gene that can alter its expression and may result in either a congenital disorder or the clinical presentation of a disease. [from NCI]
Positive CSF nucleic acid pathogen test
Positive (abnormal) result of a cerebrospinal fluid (CSF) test such as polymerase chain reaction that is targeted against a nucleic acid sequence specific for a pathogen. [from HPO]
Positive respiratory tract nucleic acid pathogen test
Positive (abnormal) result of a sputum or pharyngeal sample test such as polymerase chain reaction that is targeted against a nucleic acid sequence specific for a pathogen. [from HPO]
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