Varaico: Literature-Extracted Genetic Variants

Gene:FKBP14
Variant:p.E191_D192del1
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FKBP14

NM_017946.4:p.E191_D192del1

Associated Papers

Surgical management of progressive spinal deformities in FKBP14-associated Ehlers-Danlos syndrome: a case report and literature review.

DeMessie B et al.

Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2025

Perforation of the Sigmoid Colon due to Diverticular Rupture in a Woman With FKBP14-Related Kyphoscoliotic Ehlers-Danlos Syndrome: A Case Report.

Foy M et al.

Clinical Case Reports, 2025

Kyphoscoliotic Ehlers-Danlos syndrome caused by pathogenic variants in FKBP14: Further insights into the phenotypic spectrum and pathogenic mechanisms.

Colman M et al.

Human Mutation, 2022

Further delineation of FKBP14-related Ehlers-Danlos syndrome: A patient with early vascular complications and non-progressive kyphoscoliosis, and literature review.

Dordoni C et al.

American Journal of Medical Genetics. Part A, 2016

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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."