Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.V295I
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CRAT

NM_000755.5:p.V295I

Associated Papers

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

30097038 (PubMed )
Supplement: 12881_2018_595_MOESM1_ESM.xlsx › Sheet2

Nucleotide variations in the NPHS2 gene in Greek children with steroid-resistant nephrotic syndrome.

Megremis S et al.

Genetic Testing and Molecular Biomarkers, 2009

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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."