Varaico: Literature-Extracted Genetic Variants

Gene:PCNT
Variant:p.S2741_E2742delFs
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PCNT

NM_006031.6:p.S2741_E2742delFs

Associated Papers

Mutational analysis of consanguineous families and their targeted therapy against dwarfism.

Khan F et al.

Journal of Biomolecular Structure & Dynamics, 2025

Identification of three novel mutations in PCNT in vietnamese patients with microcephalic osteodysplastic primordial dwarfism type II.

Nguyen TH et al.

Genes & Genomics, 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."