Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A9
Variant:p.E483*
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SLC7A9

NM_014270.5:p.E483*

Associated Papers

Analysis of SLC7A9 gene mutations among Jordanian patients with cystinuria.

Halalsheh OM et al.

Annals of Medicine and Surgery (2012), 2021

Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.

Bisceglia L et al.

Human Genetics, 2007

Gene symbol: SLC3A1. Disease: cystinuria.

Nunes V et al.

Human Genetics, 2005

Gene symbol: SLC3A1. Disease: cystinuria.

Nunes V et al.

Human Genetics, 2005

Gene symbol: SLC3A1. Disease: cystinuria.

Nunes V et al.

Human Genetics, 2005

Gene symbol: SLC7A9. Disease: cystinuria, type non-I.

Nunes V et al.

Human Genetics, 2005

Gene symbol: SLC3A1. Disease: cystinuria.

Nunes V et al.

Human Genetics, 2005

Gene symbol: SLC7A9. Disease: cystinuria, untyped.

Nunes V et al.

Human Genetics, 2005

Gene symbol: SLC7A9. Disease: cystinuria, type non-I.

Nunes V et al.

Human Genetics, 2005

Gene symbol: SLC3A1. Disease: cystinuria.

Nunes V et al.

Human Genetics, 2005

Gene symbol: SLC7A9. Disease: cystinuria, type non-I.

Nunes V et al.

Human Genetics, 2005

Gene symbol: SLC7A9. Disease: cystinuria, type non-I.

Nunes V et al.

Human Genetics, 2005

Gene symbol: SLC7A9. Disease: cystinuria, type I.

Nunes V et al.

Human Genetics, 2005

Gene symbol: SLC7A9. Disease: cystinuria, type non-I.

Nunes V et al.

Human Genetics, 2005

Gene symbol: SLC7A9. Disease: cystinuria, untyped.

Nunes M et al.

Human Genetics, 2005

Gene symbol: SLC7A9. Disease: cystinuria, type non-I.

Nunes V et al.

Human Genetics, 2005

Gene symbol: SLC3A1. Disease: cystinuria.

Nunes V et al.

Human Genetics, 2005

Gene symbol: SLC7A9. Disease: cystinuria, untyped.

Nunes V et al.

Human Genetics, 2005

Gene symbol: SLC3A1. Disease: cystinuria.

Nunes V et al.

Human Genetics, 2005

Gene symbol: SLC3A1. Disease: cystinuria.

Nunes V et al.

Human Genetics, 2005

Gene symbol: SLC3A1. Disease: cystinuria.

Nunes V et al.

Human Genetics, 2005

Gene symbol: SLC3A1. Disease: cystinuria.

Nunes V et al.

Human Genetics, 2005

Gene symbol: SLC7A9. Disease: cystinuria, type non-I.

Nunes V et al.

Human Genetics, 2005

Gene symbol: SLC7A9. Disease: cystinuria, type non-I.

Nunes V et al.

Human Genetics, 2005

Gene symbol: SLC3A1. Disease: cystinuria.

Nunes V et al.

Human Genetics, 2005

Gene symbol: SLC3A1. Disease: cystinuria.

Nunes V et al.

Human Genetics, 2005

Gene symbol: SLC3A1. Disease: cystinuria.

Nunes V et al.

Human Genetics, 2005

The population-specific distribution and frequencies of genomic variants in the SLC3A1 and SLC7A9 genes and their application in molecular genetic testing of cystinuria.

Schmidt C et al.

Urological Research, 2004

[Cystinuria update: clinical, biochemical and genetic aspects].

Orts Costa JA et al.

Anales De Medicina Interna (madrid, Spain : 1984), 2003

[Cystinuria and cystine kidney lithiasis. Diagnosis and therapeutic approach].

Rousaud F et al.

Archivos Espanoles De Urologia, 2001

Cystinuria type I: identification of eight new mutations in SLC3A1.

Bisceglia L et al.

Kidney International, 2001

The molecular basis of cystinuria: an update.

Goodyer P et al.

Experimental Nephrology, 0

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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."