Publications:

Disease Associated Mutations in KIR Proteins Linked to Aberrant Inward Rectifier Channel Trafficking.

Biomolecules

Zangerl-Plessl, Eva-Maria EM; Qile, Muge M; Bloothooft, Meye M; Stary-Weinzinger, Anna A; van der Heyden, Marcel A G MAG

Publication Date: 2019-10-25

Variant appearance in text: KCNJ1: G77R

PubMed Link: 31731488

Variant Present in the following documents:

• Main text
• biomolecules-09-00650.pdf

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Basolateral membrane K+ channels in renal epithelial cells.

American Journal Of Physiology. Renal Physiology

Hamilton, Kirk L KL; Devor, Daniel C DC

Publication Date: 2012-05-01

Variant appearance in text: KCNJ1: G77R

PubMed Link: 22338089

Variant Present in the following documents:

• Main text

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KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Reichold, Markus M; Zdebik, Anselm A AA; Lieberer, Evelyn E; Rapedius, Markus M; Schmidt, Katharina K; Bandulik, Sascha S; Sterner, Christina C; Tegtmeier, Ines I; Penton, David D; Baukrowitz, Thomas T; Hulton, Sally-Anne SA; Witzgall, Ralph R; Ben-Zeev, Bruria B; Howie, Alexander J AJ; Kleta, Robert R; Bockenhauer, Detlef D; Warth, Richard R

Publication Date: 2010-08-10

Variant appearance in text: KCNJ1: 229G>C; G77R

PubMed Link: 20651251

Variant Present in the following documents:

• Main text

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