Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A19
Variant:p.R95P
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SLC6A19

NM_001003841.3:p.R95P

Associated Papers

Hartnup disease-causing SLC6A19 mutations lead to B0AT1 aberrant trafficking and ACE2 mis-localisation implicating the endoplasmic reticulum protein quality control.

Alkhofash NF et al.

Frontiers in Cell and Developmental Biology, 2025

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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."