Varaico: Literature-Extracted Genetic Variants

Gene:PCNT
Variant:p.E2654*
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PCNT

NM_006031.6:p.E2654*

Associated Papers

A novel homozygous mutation of the PCNT gene in a Chinese patient with microcephalic osteodysplastic primordial dwarfism type II.

Liu H et al.

Molecular Genetics & Genomic Medicine, 2021

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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."