Varaico: Literature-Extracted Genetic Variants

Gene:OMA1
Variant:p.H69Y
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OMA1

NM_145243.5:p.H69Y

Associated Papers

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Feliubadaló L et al.

Scientific Reports, 2017

28050010 (PubMed )
Supplement: srep37984-s2.xls › Exome_geMODERATE_variants

Using reference databases of genetic variation to evaluate the potential pathogenicity of candidate disease variants.

Kenna KP et al.

Human Mutation, 2013

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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."