Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.V249I
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POLG

NM_002693.3:p.V249I

Associated Papers

Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC).

Ferreira C et al.

American Journal of Medical Genetics. Part A, 2014

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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."