Varaico: Literature-Extracted Genetic Variants

Gene:CS
Variant:p.D156V
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CS

NM_004077.3:p.D156V

Associated Papers

Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations.

Paus S et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 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."