Varaico: Literature-Extracted Genetic Variants

Gene:SLC3A1
Variant:p.Y461*
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SLC3A1

NM_000341.4:p.Y461*

Associated Papers

Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients.

Bisceglia L et al.

Molecular Genetics and Metabolism, 2010

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

Bisceglia L et al.

Human Genetics, 2007

Identification of novel SLC3A1 gene mutations in Spanish cystinuria families and association with clinical phenotypes.

Guillén M et al.

Clinical 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: 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

[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

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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."