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Publication : journal of clinical investigation Subject : genetic disorders Subject : genetic testing

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Academic Journal

SLITRK6 mutations cause myopia and deafness in humans and mice.

Authors : Tekin, Mustafa (AUTHOR); Chioza, Barry A. (AUTHOR); Yoshifumi Matsumoto (AUTHOR)

Subjects: MYOPIA; REFRACTIVE errors; GENETIC disorders

Source: Journal of Clinical Investigation. May2013, Vol. 123 Issue 5, p2094-2102. 9p. 2 Color Photographs, 1 Chart, 3 Graphs.

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Academic Journal

Residual [beta] cell function and monogenic variants in long-duration type 1 diabetes patients

Authors : Yu, Marc Gregory; Keenan, Hillary A.; Shah, Hetal S.

Source: Journal of Clinical Investigation. August 2019, Vol. 129 Issue 8, p3252, 12 p.

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Academic Journal

Cilia, mitochondria, and cardiac development

Authors : Chaudhry, Bill; Henderson, Deborah J.

Source: Journal of Clinical Investigation. July 2019, Vol. 129 Issue 7, p2666, 3 p.

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Academic Journal

Chloride channel diseases resulting from impaired transepithelial transport or vesicular function.

Authors : Jentsch, Thomas J.; Maritzen, Tanja; Zdebik, Anselm A.

Subjects: CHLORIDE channels; PHYSIOLOGICAL control systems; MUSCLE diseases

Source: Journal of Clinical Investigation. Aug2005, Vol. 115 Issue 8, p2039. 8p. 3 Diagrams.

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