Varaico: Literature-Extracted Genetic Variants

Gene:PFN1
Variant:p.T106_D107delFs
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PFN1

NM_005022.4:p.T106_D107delFs

Associated Papers

Genetic Screening of ZNF687 and PFN1 in a Paget's Disease of Bone Cohort Indicates an Important Role for the Nuclear Localization Signal of ZNF687.

Huybrechts Y et al.

Calcified Tissue International, 2023

Profilin 1 deficiency drives mitotic defects and reduces genome stability.

Scotto di Carlo F et al.

Communications Biology, 2023

Mutations in Profilin 1 Cause Early-Onset Paget's Disease of Bone With Giant Cell Tumors.

Wei Z et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2021

The Loss of Profilin 1 Causes Early Onset Paget's Disease of Bone.

Scotto di Carlo F et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2020

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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."