Varaico: Literature-Extracted Genetic Variants

Gene:PAM
Variant:p.L478I
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PAM

NM_001177306.2:p.L478I

Associated Papers

Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.

Virgilio R et al.

Journal of Neurology, 2008

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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."