Varaico: Literature-Extracted Genetic Variants

Gene:SLC3A1
Variant:p.R227W
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SLC3A1

NM_000341.4:p.R227W

Associated Papers

Whole Exome Sequencing in Chinese Pediatric Patients With Nephrolithiasis.

Wang X et al.

Kidney International Reports, 2025

40814648 (PubMed )
Supplement: mmc1.pdf

Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine.

Martell HJ et al.

Bmc Genomics, 2017

28812535 (PubMed )
Supplement: 12864_2017_3913_MOESM1_ESM.xlsx › Table_S10

Mutation analysis of SLC7A9 in cystinuria patients in Sweden.

Harnevik L et al.

Genetic Testing, 2003

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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."