Varaico: Literature-Extracted Genetic Variants

Gene:SLC3A1
Variant:p.N286T
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SLC3A1

NM_000341.4:p.N286T

Associated Papers

Mechanisms involved in aminoacidurias: impacts of genetic and environmental factors.

Ajayi JA et al.

Current Research in Physiology, 2025

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

The genetic diversity of cystinuria in a UK population of patients.

Wong KA et al.

Bju International, 2015

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