Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A15
Variant:p.G113C
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SLC25A15

NM_014252.4:p.G113C

Associated Papers

Late onset hyperornithinemia-hyperammonemia-homocitrullinuria syndrome - how web searching by the family solved unexplained unconsciousness: a case report.

Silfverberg T et al.

Journal of Medical Case Reports, 2018

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

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH) presenting with acute fulminant hepatic failure.

Mhanni AA et al.

Journal of Pediatric Gastroenterology and Nutrition, 2008

HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation.

Fecarotta S et al.

Journal of Inherited Metabolic Disease, 2006

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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."