Varaico: Literature-Extracted Genetic Variants

Gene:POLA1
Variant:p.K118K
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POLA1

NM_016937.4:p.K118K

Associated Papers

Inherited Reticulate Pigmentary Disorders.

Lin MH et al.

Genes, 2023

Immune Dysfunction in Mendelian Disorders of POLA1 Deficiency.

Starokadomskyy P et al.

Journal of Clinical Immunology, 2021

DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesis.

Starokadomskyy P et al.

Nature Immunology, 2016

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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."