Publications:

Identification of a dysfunctional exon-skipping splice variant in GLUT9/SLC2A9 causal for renal hypouricemia type 2.

Frontiers In Genetics

Toyoda, Yu Y; Cho, Sung Kweon SK; Tasic, Velibor V; Pavelcová, Kateřina K; Bohatá, Jana J; Suzuki, Hiroshi H; David, Victor A VA; Yoon, Jaeho J; Pallaiova, Anna A; Šaligová, Jana J; Nousome, Darryl D; Cachau, Raul R; Winkler, Cheryl A CA; Takada, Tappei T; Stibůrková, Blanka B

Publication Date: 2022

Variant appearance in text: SLC2A9: 1419+1G>A; rs930099562

PubMed Link: 36733941

Variant Present in the following documents:

• Main text
• fgene-13-1048330.pdf

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Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.

Nature Communications

Cirulli, Elizabeth T ET; White, Simon S; Read, Robert W RW; Elhanan, Gai G; Metcalf, William J WJ; Tanudjaja, Francisco F; Fath, Donna M DM; Sandoval, Efren E; Isaksson, Magnus M; Schlauch, Karen A KA; Grzymski, Joseph J JJ; Lu, James T JT; Washington, Nicole L NL

Publication Date: 2020-01-28

Variant appearance in text: SLC2A9: 1419+1G>A

PubMed Link: 31992710

Variant Present in the following documents:

• 41467_2020_Article_14288.pdf

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Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis.

Journal Of The American Society Of Nephrology : Jasn

Halbritter, Jan J; Baum, Michelle M; Hynes, Ann Marie AM; Rice, Sarah J SJ; Thwaites, David T DT; Gucev, Zoran S ZS; Fisher, Brittany B; Spaneas, Leslie L; Porath, Jonathan D JD; Braun, Daniela A DA; Wassner, Ari J AJ; Nelson, Caleb P CP; Tasic, Velibor V; Sayer, John A JA; Hildebrandt, Friedhelm F

Publication Date: 2015-03

Variant appearance in text: SLC2A9: 1419+1G>A

PubMed Link: 25296721

Variant Present in the following documents:

• Main text

View BVdb publication page