Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A9
Variant:p.P122S
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SLC7A9

NM_014270.5:p.P122S

Associated Papers

Genotype and phenotype spectrum of 10 children with STXBP1 gene-related encephalopathy and epilepsy.

Dong M et al.

Frontiers in Pediatrics, 2022

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_S10

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."