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PubMed (GeneRIF) for id: 89876

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Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility.
Martinez G, Beurois J, Dacheux D, Cazin C, Bidart M, Kherraf ZE, Robinson DR, Satre V, Le Gac G, Ka C, Gourlaouen I, Fichou Y, Petre G, Dulioust E, Zouari R, Thierry-Mieg N, Touré A, Arnoult C, Bonhivers M, Ray P, Coutton C. Martinez G, et al. J Med Genet. 2020 Oct;57(10):708-716. doi: 10.1136/jmedgenet-2019-106775. Epub 2020 Mar 11. J Med Genet. 2020. PMID: 32161152
Progression of atherosclerosis is associated with variation in the alpha1-antitrypsin gene.
Talmud PJ, Martin S, Steiner G, Flavell DM, Whitehouse DB, Nagl S, Jackson R, Taskinen MR, Frick MH, Nieminen MS, Kesäniemi YA, Pasternack A, Humphries SE, Syvänne M; Diabetes Atherosclerosis Intervention Study Investigators. Talmud PJ, et al. Arterioscler Thromb Vasc Biol. 2003 Apr 1;23(4):644-9. doi: 10.1161/01.ATV.0000065196.61663.8D. Epub 2003 Mar 6. Arterioscler Thromb Vasc Biol. 2003. PMID: 12692006 Clinical Trial.