Varaico: Literature-Extracted Genetic Variants

Gene:PCNT
Variant:p.E1041*
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PCNT

NM_006031.6:p.E1041*

Associated Papers

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

Inherited neurovascular diseases affecting cerebral blood vessels and smooth muscle.

Sam C et al.

Metabolic Brain Disease, 2015

Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): a potential role of pericentrin in hematopoiesis.

Unal S et al.

Pediatric Blood & Cancer, 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."