Varaico: Literature-Extracted Genetic Variants

Gene:SLC3A1
Variant:p.E482K
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SLC3A1

NM_000341.4:p.E482K

Associated Papers

Molecular identification of missense variants in SLC3A1 gene; an approach leading to computer-aided drug design for cystinuria.

Zafar R et al.

Gene, 2023

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

Martell HJ et al.

Bmc Genomics, 2017

Human gene mutations. Gene symbol: SLC3A1. Disease: cystinuria.

Bisceglia L et al.

Human Genetics, 2007

Human gene mutations. Gene symbol: SLC3A1. Disease: cystinuria.

Bisceglia L et al.

Human Genetics, 2007

Human gene mutations. Gene symbol: SLC3A1. Disease: cystinuria.

Bisceglia L et al.

Human Genetics, 2007

Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients.

Harnevik L et al.

Human Mutation, 2001

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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."