Varaico: Literature-Extracted Genetic Variants

Gene:P4HB
Variant:p.D292N
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P4HB

NM_000918.4:p.D292N

Associated Papers

Prevalence of Monogenic Bone Disorders in a Dutch Cohort of Atypical Femur Fracture Patients.

Zhou W et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2023

Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia).

Nadyrshina D et al.

Genes, 2022

The Redox Activity of Protein Disulfide Isomerase Inhibits ALS Phenotypes in Cellular and Zebrafish Models.

Parakh S et al.

Iscience, 2020

Emerging Evidence Highlighting the Importance of Redox Dysregulation in the Pathogenesis of Amyotrophic Lateral Sclerosis (ALS).

Jagaraj CJ et al.

Frontiers in Cellular Neuroscience, 2020

ALS-linked protein disulfide isomerase variants cause motor dysfunction.

Woehlbier U et al.

The Embo Journal, 2016

Identification of rare protein disulfide isomerase gene variants in amyotrophic lateral sclerosis patients.

Gonzalez-Perez P et al.

Gene, 2015

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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."