Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A12
Variant:p.P78L
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SLC22A12

NM_144585.4:p.P78L

Associated Papers

Amplicon targeted resequencing for SLC2A9 and SLC22A12 identified novel mutations in hypouricemia subjects.

Zhou Z et al.

Molecular Genetics & Genomic Medicine, 2019

Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review.

Zhou Z et al.

Bmc Medical Genetics, 2018

A novel mutation of SLC22A12 gene causing primary renal hypouricemia in a patient with metabolic syndrome.

Lam CW et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008

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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."