Varaico: Literature-Extracted Genetic Variants

Gene:PCNT
Variant:p.E1860*
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PCNT

NM_006031.6:p.E1860*

Associated Papers

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

Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families.

Willems M et al.

Journal of Medical Genetics, 2010

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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."