Varaico: Literature-Extracted Genetic Variants

Gene:PCNT
Variant:p.L1007fs
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PCNT

NM_006031.6:p.L1007fs

Associated Papers

Case Report: short stature, kidney anomalies, and cerebral aneurysms in a novel homozygous mutation in the PCNT gene associated with microcephalic osteodysplastic primordial dwarfism type II.

Petraroli M et al.

Frontiers in Endocrinology, 2023

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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."