Varaico: Literature-Extracted Genetic Variants

Gene:F3
Variant:p.E215G
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F3

NM_001993.5:p.E215G

Associated Papers

High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets.

Wassif CA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016

Private mitochondrial DNA variants in danish patients with hypertrophic cardiomyopathy.

Hagen CM et al.

Plos One, 2015

Association between idiopathic hearing loss and mitochondrial DNA mutations: a study on 169 hearing-impaired subjects.

Guaran V et al.

International Journal of Molecular Medicine, 2013

Mitochondrial DNA sequence variation and haplogroup distribution in Chinese patients with LHON and m.14484T>C.

Yu D et al.

Plos One, 2010

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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."