Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.Y951H
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POLG

NM_002693.3:p.Y951H

Associated Papers

Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants.

Castiglioni C et al.

European Journal of Human Genetics : Ejhg, 2018

Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase γ mutations.

Pitceathly RD et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2013

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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."