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Exact(7)
Some of these mutations are recorded in MITOMAP (http://www.mitomap.org/MITOMAP) as being related to some diseases, although none of them are labelled as "confirmed" pathogenic mutations.
The dystrophin gene is one of the largest in the human genome (approximately 2.5 million base pairs, encoding 79 exons) and many thousands of mutations are recorded [7].
11 Among them, a set of 13 mutations are recorded for the α-tropomyosin gene.
So far, over 800 different mutations are recorded that lie in introns and exons.
22 All known BRCA1/2 mutations are recorded in the Breast Information Core database (http://www.nhgri.nih.gov/Intramural_research/Lab_transfer/Bic/).nih.gov/Intramural_research/Lab_transfer/Bic/
Although HGMD combines missense and non-sense mutations together, these two types of mutations are recorded separately in OMIA.
Similar(53)
Although we have not performed sequencing on matched normal blood samples in this study, the mutations identified were assumed to be somatic because they are located in the common mutational hotspot observed in uterine leiomyomas and fibroadenomas, and none of the mutations were recorded as germline variants in the databases.
Mutations were recorded according to the International AIDS Society-USA consensus [23].
In 2010, single mutations were recorded in some isolates in addition to the presence of the HP cleavage site pattern of 2006 in all years which means that different genotypes of H5N1 virus are co-circulating in different areas.
In 2009, aa changes were more frequent in the cleavage region of the HA and more than one aa mutations were recorded in one isolate compared to the pattern of 2006 which represent the HPAIV ideal pattern.
Also, while initially, the most commonly occurring mutations were recorded; now there is potentially a bias toward only novel mutations being recorded in the Leiden database.
Related(20)
removals are recorded
mutations are reduced
transfers are recorded
mutations are recovered
mutations are produced
developments are recorded
mutations are referenced
variations are recorded
mutations are regarded
times are recorded
mutations are summarized
mutations are associated
mutations are seen
mutations are observed
mutations are spread
mutations are mapped
mutations are kept
mutations are located
mutations are replicated
mutations are implicated
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