Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A15
Variant:p.L71Q
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SLC25A15

NM_014252.4:p.L71Q

Associated Papers

Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Syndrome Causing Severe Neonatal Hyperammonemia.

Wild KT et al.

Jimd Reports, 2019

Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans.

Doimo M et al.

Jimd Reports, 2016

The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.

Martinelli D et al.

Orphanet Journal of Rare Diseases, 2015

Insights into the mutation-induced HHH syndrome from modeling human mitochondrial ornithine transporter-1.

Wang JF et al.

Plos One, 2012

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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."