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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PARS2

Variant:p.E140K

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PARS2

NM_152268.4:p.E140K

hg38:chr1:54758744 C>T

Associated Papers

New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

Pronicka E et al.

Journal of Translational Medicine, 2016

27290639 (PubMed )

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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."