Varaico: Literature-Extracted Genetic Variants

Gene:PCNT
Variant:p.Q1456*
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PCNT

NM_006031.6:p.Q1456*

Associated Papers

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

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

Huang-Doran I et al.

Diabetes, 2011

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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."