Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A19
Variant:p.V252I
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SLC6A19

NM_001003841.3:p.V252I

Associated Papers

Indicators of HSV1 Infection, ECM-Receptor Interaction, and Chromatin Modulation in a Nuclear Family with Schizophrenia.

Huang YC et al.

Journal of Personalized Medicine, 2023

37763159 (PubMed )
Supplement: jpm-13-01392-s001.zip › Supplementary_Table_S3.xlsx › Variants

Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations.

Camargo SM et al.

Gastroenterology, 2009

Hartnup disorder: unraveling the mystery.

Kraut JA et al.

Trends in Pharmacological Sciences, 2005

Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19.

Seow HF et al.

Nature Genetics, 2004

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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."