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Literature for OMIM 179830: RENAL TUBULAR ACIDOSIS, PROXIMAL
Xenbase Articles:
( Denotes literature images)
A novel I551F variant of the Na+/HCO3- cotransporter NBCe1-A shows reduced cell surface expression, resulting in diminished transport activity., Yamazaki O,Yamashita M,Li J,Ochiai-Homma F,Yoshida T,Hirahashi J,Furukawa T,Kozuma K,Fujigaki Y,Seki G,Hayashi M,Shibata S, Am J Physiol Renal Physiol. December 1, 2021; 321(6):1522-1466. |