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In 2018, researchers were able to associate a mitochondrial complex I deficiency with a mutation in NDUFA6 using GeneMatcher. The service allowed them to locate 3 of 4 patients with the condition and mutation. [18] [19] In 2019, GeneMatcher allowed researchers to link DEGS1 to an autosomal recessive hypomyelinating leukodystrophy. They had ...
The practices were united with each other after both submitted the gene as a candidate to the online service GeneMatcher, which matched them together and allowed them to confirm the syndrome. [ 7 ] In 2019, Okamoto proposed that Au–Kline syndrome and Okamoto syndrome were synonymous, because a mutation in the HNRNPK gene had been found in a ...
dbSNP is an online resource implemented to aid biology researchers. Its goal is to act as a single database that contains all identified genetic variation, which can be used to investigate a wide variety of genetically based natural phenomena.
The following requirements apply to all mutation operators used in an EA: [2] [3] every point in the search space must be reachable by one or more mutations. there must be no preference for parts or directions in the search space (no drift). small mutations should be more probable than large ones.
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There are several methods, or forms, of mutation that exist including spontaneous mutation, errors during replication and repair, as well as mutation due to environmental effects. [8] These origins of mutations can cause many different types of mutations which influence gene expression on both large and small scales.
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