Varaico: Literature-Extracted Genetic Variants

Gene:FKBP5
Variant:p.V55L
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FKBP5

NM_004117.4:p.V55L

Associated Papers

Advances in the genetics of Paget's disease of bone: from pathophysiology, diagnosis to clinical implications.

Michou L et al.

Expert Review of Endocrinology & Metabolism, 2025

Human Genetics of Sclerosing Bone Disorders.

De Ridder R et al.

Current Osteoporosis Reports, 2018

A FKBP5 mutation is associated with Paget's disease of bone and enhances osteoclastogenesis.

Lu B et al.

Experimental & Molecular Medicine, 2017

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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."