Varaico: Literature-Extracted Genetic Variants

Gene:SLC3A1
Variant:p.R181W
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SLC3A1

NM_000341.4:p.R181W

Associated Papers

Genetic testing enables a precision medicine approach for nephrolithiasis and nephrocalcinosis in pediatrics: a single-center cohort.

Huang L et al.

Molecular Genetics and Genomics : Mgg, 2022

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_S5

The genomic landscape of diffuse intrinsic pontine glioma and pediatric non-brainstem high-grade glioma.

Wu G et al.

Nature Genetics, 2014

24705251 (PubMed )
Supplement: NIHMS573627-supplement-2.xlsx › ST4a
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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."