Varaico: Literature-Extracted Genetic Variants

Gene:POTEM
Variant:p.G338R
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POTEM

NM_001145442.1:p.G338R

Associated Papers

Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI).

Mykkänen J et al.

Human Molecular Genetics, 2000

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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."