Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A9
Variant:p.V330M
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SLC7A9

NM_014270.5:p.V330M

Associated Papers

Clinical Course and Mutational Analysis of Patients with Cystine Stone: A Single-Center Experience.

Jeong JY et al.

Biomedicines, 2023

Interpretation of SLC3A1 and SLC7A9 variants in cystinuria patients: The significance of the PM3 criterion and protein stability.

Lee B et al.

Urolithiasis, 2023

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_S9

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."