Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.L258L
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PAH

NM_000277.3:p.L258L

Associated Papers

Age and origin of the G774A mutation in SLC22A12 causing renal hypouricemia in Japanese.

Ichida K et al.

Clinical Genetics, 2008

Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion.

Ichida K et al.

Journal of the American Society of Nephrology : Jasn, 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."