A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux.

TitleA homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux.
Publication TypeJournal Article
Authorsvan der Ven, AT, Kobbe, B, Kohl, S, Shril, S, Pogoda, H-M, Imhof, T, Ityel, H, Vivante, A, Chen, J, Hwang, D-Y, Connaughton, DM, Mann, N, Widmeier, E, Taglienti, M, Schmidt, JMagdalena, Nakayama, M, Senguttuvan, P, Kumar, S, Tasic, V, Kehinde, EO, Mane, SM, Lifton, RP, Soliman, N, Lu, W, Bauer, SB, Hammerschmidt, M, Wagener, R, Hildebrandt, F
PubMed ID29351342
PubMed Central IDPMC5774751
Grant ListUM1 HG006504 / HG / NHGRI NIH HHS / United States
UL1 TR001863 / TR / NCATS NIH HHS / United States
P30 DK079310 / DK / NIDDK NIH HHS / United States
S10 OD018521 / OD / NIH HHS / United States
R01 DK078226 / DK / NIDDK NIH HHS / United States
DK088767 / NH / NIH HHS / United States
T32 DK007726 / DK / NIDDK NIH HHS / United States