Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A19
Variant:p.L114delFs
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SLC6A19

NM_001003841.3:p.L114delFs

Associated Papers

Mechanisms involved in aminoacidurias: impacts of genetic and environmental factors.

Ajayi JA et al.

Current Research in Physiology, 2025

Study of Seizure-Manifested Hartnup Disorder Case Induced By Novel Mutations in SLC6A19.

Zhu Y et al.

Open Life Sciences, 2018

The role of the neutral amino acid transporter B0AT1 (SLC6A19) in Hartnup disorder and protein nutrition.

Bröer S

Iubmb Life, 2009

Further evidence for allelic heterogeneity in Hartnup disorder.

Azmanov DN et al.

Human Mutation, 2008

Neutral amino acid transport in epithelial cells and its malfunction in Hartnup disorder.

Bröer S et al.

Biochemical Society Transactions, 2005

Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder.

Kleta R et al.

Nature Genetics, 2004

Collectrin and ACE2 in renal and intestinal amino acid transport.

Singer D et al.

Channels (austin, Tex.), 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."