Varaico: Literature-Extracted Genetic Variants

Gene:SLC3A1
Variant:p.I157T
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SLC3A1

NM_000341.4:p.I157T

Associated Papers

Genetic and clinical characteristics of Japanese cystinuria with exon and exon-intron boundary variants.

Sakamoto S et al.

Scientific Reports, 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_S5
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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."