Varaico: Literature-Extracted Genetic Variants

Gene:IVD
Variant:p.E408K
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IVD

NM_002225.5:p.E408K

Associated Papers

A Rare Cause of Recurrent Acute Pancreatitis in a Child: Isovaleric Acidemia with Novel Mutation.

Sag E et al.

Pediatric Gastroenterology, Hepatology & Nutrition, 2017

Phenotypic Variability and Newly Identified Mutations of the IVD Gene in Japanese Patients with Isovaleric Acidemia.

Sakamoto O et al.

The Tohoku Journal of Experimental Medicine, 2015

Repository of mutations from Oman: The entry point to a national mutation database.

Rajab A et al.

F1000research, 2015

Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia.

Ozgul RK et al.

European Journal of Medical Genetics, 2014

Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene.

Hertecant JL et al.

European Journal of Medical Genetics, 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."