Varaico: Literature-Extracted Genetic Variants

Gene:PCNT
Variant:p.C1190fs
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PCNT

NM_006031.6:p.C1190fs

Associated Papers

Genetic Primary Microcephalies: When Centrosome Dysfunction Dictates Brain and Body Size.

Farcy S et al.

Cells, 2023

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

32671003 (PubMed )
Supplement: Table_1.xlsx › Sheet1

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

Chen CT et al.

Current Biology : Cb, 2014

Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes.

Huang-Doran I et al.

Diabetes, 2011

Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling.

Griffith E et al.

Nature Genetics, 2008

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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."