Varaico: Literature-Extracted Genetic Variants

Gene:PCNT
Variant:p.E1774*
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PCNT

NM_006031.6:p.E1774*

Associated Papers

Clinical and functional characterization of a patient carrying a compound heterozygous pericentrin mutation and a heterozygous IGF1 receptor mutation.

Müller E et al.

Plos One, 2012

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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."