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Mitochondrial Hearing Loss: Genetic Variants and Clinical Progression. [PDF]
Miwa T, Hashimoto K, Seto T, Sakamoto H.
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Disease-associated genetic variants can cause mutations in tissue-specific protein isoforms
Weykopf G +17 more
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Genetic disorders and genetic variants
Clinical Ophthalmic Genetics and Genomics, 2022Sofia Douzgou Houge +2 more
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Genetic Variants of Adrenoceptors
2023Adrenoceptors are class A G-protein-coupled receptors grouped into three families (α1-, α2-, and β-adrenoceptors), each one including three members. All nine corresponding adrenoceptor genes display genetic variation in their coding and adjacent non-coding genomic region. Coding variants, i.e., nucleotide exchanges within the transcribed and translated
Andrea, Ahles, Stefan, Engelhardt
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COMT genetic variants and pain
Drugs of Today, 2011Catechol-O-methyltransferase (COMT) metabolizes catechol neurotransmitters dopamine, noradrenaline and adrenaline that are involved in various physiological functions including mood, cognition and stress response. Human pain is closely related to all these functions.
Inna, Belfer, S, Segall
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Genetically encoded generators of genetic variants
Journal of Proteomics, 2009Several specific molecular mechanisms contribute to the generation of genetic variants at low rates. Some of these mechanisms involve the action of specific gene products as variation generators. We discuss here known as well as still hypothetical ways by which natural reality may succeed to keep the rates of genetic variation at low levels that insure
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