Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A15
Variant:p.K245*
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SLC25A15

NM_014252.4:p.K245*

Associated Papers

The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.

Martinelli D et al.

Orphanet Journal of Rare Diseases, 2015

Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.

Tessa A et al.

Human Mutation, 2009

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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."