Varaico: Literature-Extracted Genetic Variants

Gene:PCNA
Variant:p.K80N
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PCNA

NM_182649.2:p.K80N

Associated Papers

Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations.

Kavadas FD et al.

The Journal of Allergy and Clinical Immunology, 2008

RNase MRP RNA and human genetic diseases.

Martin AN et al.

Cell Research, 2007

Mutations in the RNA component of RNase mitochondrial RNA processing might cause Omenn syndrome.

Roifman CM et al.

The Journal of Allergy and Clinical Immunology, 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."