Varaico: Literature-Extracted Genetic Variants

Gene:PCNT
Variant:p.R1035*
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PCNT

NM_006031.6:p.R1035*

Associated Papers

Clinical Profiles and Genetic Spectra of 814 Chinese Children With Short Stature.

Li X et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

A novel homozygous mutation of the PCNT gene in a Chinese patient with microcephalic osteodysplastic primordial dwarfism type II.

Liu H et al.

Molecular Genetics & Genomic Medicine, 2021

Clinical and genetic analysis in a Chinese cohort of children and adolescents with diabetes/persistent hyperglycemia.

Ding Y et al.

Journal of Diabetes Investigation, 2021

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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."