Varaico: Literature-Extracted Genetic Variants

Gene:POLE2
Variant:p.P95S
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POLE2

NM_002692.4:p.P95S

Associated Papers

Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype.

Grosch M et al.

Matrix Biology : Journal of the International Society for Matrix Biology, 0

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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."