Varaico: Literature-Extracted Genetic Variants

Gene:GGPS1
Variant:p.D188Y
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GGPS1

NM_004837.4:p.D188Y

Associated Papers

Identification of rare genetic variants in familial forms and unrelated cases of bisphosphonates-associated atypical femur fracture.

Michou L et al.

Joint Bone Spine, 2025

Is there genetic susceptibility for atypical femoral fractures?

Ellacott M et al.

Injury, 2024

The Genetics of Atypical Femur Fractures-a Systematic Review.

Zhou W et al.

Current Osteoporosis Reports, 2021

GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome.

Foley AR et al.

Annals of Neurology, 2020

Functional Characterization of a GGPPS Variant Identified in Atypical Femoral Fracture Patients and Delineation of the Role of GGPPS in Bone-Relevant Cell Types.

Roca-Ayats N et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2018

Reduced Activity of Geranylgeranyl Diphosphate Synthase Mutant Is Involved in Bisphosphonate-Induced Atypical Fractures.

Lisnyansky M et al.

Molecular Pharmacology, 2018

Genetic Risk Factors for Atypical Femoral Fractures (AFFs): A Systematic Review.

Nguyen HH et al.

Jbmr Plus, 2018

GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates.

Roca-Ayats N et al.

The New England Journal of 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."