Publications:

Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease.

Bmc Nephrology

Gast, Christine C; Marinaki, Anthony A; Arenas-Hernandez, Monica M; Campbell, Sara S; Seaby, Eleanor G EG; Pengelly, Reuben J RJ; Gale, Daniel P DP; Connor, Thomas M TM; Bunyan, David J DJ; Hodaňová, Kateřina K; Živná, Martina M; Kmoch, Stanislav S; Ennis, Sarah S; Venkat-Raman, G G

Publication Date: 2018-10-30

Variant appearance in text: SI: 184A>C

PubMed Link: 30376835

Variant Present in the following documents:

• 12882_2018_Article_1107.pdf

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Phosphorylation of syndapin I F-BAR domain at two helix-capping motifs regulates membrane tubulation.

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

Quan, Annie A; Xue, Jing J; Wielens, Jerome J; Smillie, Karen J KJ; Anggono, Victor V; Parker, Michael W MW; Cousin, Michael A MA; Graham, Mark E ME; Robinson, Phillip J PJ

Publication Date: 2012-03-06

Variant appearance in text: SI: K62Q

PubMed Link: 22355135

Variant Present in the following documents:

• Main text

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