Publications:

Pathogenic Variants of SLC22A12 (URAT1) and SLC2A9 (GLUT9) in Spanish Patients with Renal Hypouricemia: Founder Effect of SLC2A9 Variant c.374C>T; p.(T125M).

International Journal Of Molecular Sciences

Perdomo-Ramirez, Ana A; Cordoba-Lanus, Elizabeth E; Trujillo-Frias, Carmen Jane CJ; Gonzalez-Navasa, Carolina C; Ramos-Trujillo, Elena E; Luis-Yanes, Maria Isabel MI; Garcia-Nieto, Victor V; Claverie-Martin, Felix F; ,

Publication Date: 2023-05-08

Variant appearance in text: rs3756236

PubMed Link: 37176161

Variant Present in the following documents:

• Main text
• ijms-24-08455.pdf

View BVdb publication page

Systemic Investigation of Promoter-wide Methylome and Genome Variations in Gout.

International Journal Of Molecular Sciences

Tseng, Chia-Chun CC; Wong, Man Chun MC; Liao, Wei-Ting WT; Chen, Chung-Jen CJ; Lee, Su-Chen SC; Yen, Jeng-Hsien JH; Chang, Shun-Jen SJ

Publication Date: 2020-07-01

Variant appearance in text: rs3756236

PubMed Link: 32630231

Variant Present in the following documents:

• ijms-21-04702-s001.pdf

View BVdb publication page