Varaico: Literature-Extracted Genetic Variants

Gene:ALB
Variant:p.A467T
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ALB

NM_000477.7:p.A467T

Associated Papers

Ketogenic diet in a patient with refractory status epilepticus due to POLG mutation.

Koessler M et al.

Jimd Reports, 2021

Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication.

Kasiviswanathan R et al.

The Journal of Biological Chemistry, 2009

POLG1 mutations associated with progressive encephalopathy in childhood.

Kollberg G et al.

Journal of Neuropathology and Experimental Neurology, 2006

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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."