Varaico: Literature-Extracted Genetic Variants

Gene:PCNT
Variant:p.A1768delFs
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PCNT

NM_006031.6:p.A1768delFs

Associated Papers

Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2-year-old girl.

Rossi-Espagnet MC et al.

American Journal of Medical Genetics. Part A, 2020

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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."