Varaico: Literature-Extracted Genetic Variants

Gene:PCNT
Variant:p.Q490*
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PCNT

NM_006031.6:p.Q490*

Associated Papers

Overexpression of miR-1306-5p, miR-3195, and miR-3914 Inhibits Ameloblast Differentiation through Suppression of Genes Associated with Human Amelogenesis Imperfecta.

Yoshioka H et al.

International Journal of Molecular Sciences, 2021

33672174 (PubMed )
Supplement: ijms-22-02202-s001.zip › Supplementary_Table_S4-1_Final_021921.xlsx › Table_S3.1

Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.

Abdel-Salam GMH et al.

American Journal of Medical Genetics. Part A, 2020

Microcephalic osteodyplastic primordial dwarfism type II: case report with unique oral findings and a new mutation in the pericentrin gene.

Ghosh S et al.

Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 2020

A Novel PCNT Frame Shift Variant (c.7511delA) Causing Osteodysplastic Primordial Dwarfism of Majewski Type 2 (MOPD II).

Dehghan Tezerjani M et al.

Frontiers in Pediatrics, 2020

New PCNT candidate missense variant in a patient with oral and maxillofacial osteodysplasia: a case report.

Aoyama KI et al.

Bmc Medical Genetics, 2019

Multiple vascular malformations in a patient with microcephalic osteodysplastic primordial dwarfism type ii.

Ruiz-Botero F et al.

Neurologia (barcelona, Spain), 2017

Lipoid proteinosis or Urbach-Wiethe disease: Description of a new case with cerebral involvement.

Abril-Jaramillo J et al.

Neurologia (barcelona, Spain), 2017

A unique set of centrosome proteins requires pericentrin for spindle-pole localization and spindle orientation.

Chen CT et al.

Current Biology : Cb, 2014

A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report.

Pachajoa H et al.

Journal of Medical Case Reports, 2014

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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."