Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A12
Variant:p.Q312L
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SLC22A12

NM_144585.4:p.Q312L

Associated Papers

Absence of SLC22A12 gene mutations in Greek Caucasian patients with primary renal hypouricaemia.

Tzovaras V et al.

Scandinavian Journal of Clinical and Laboratory Investigation, 2007

Mutational analysis of idiopathic renal hypouricemia in Korea.

Cheong HI et al.

Pediatric Nephrology (berlin, Germany), 2005

A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese.

Iwai N et al.

Kidney International, 2004

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."