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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SARDH

Variant:p.D120V

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SARDH

NM_001134707.2:p.D120V

hg38:chr9:133732574 T>A

Associated Papers

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.

Fratter C et al.

Neurology, 2010

20479361 (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."