Varaico: Literature-Extracted Genetic Variants

Gene:MRPL58
Variant:p.E171D
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MRPL58

NM_001545.3:p.E171D

Associated Papers

Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis.

Herdewyn S et al.

Human Molecular 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."