Varaico: Literature-Extracted Genetic Variants

Gene:VCP
Variant:p.I254F
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VCP

NM_007126.5:p.I254F

Associated Papers

2024 VCP International Conference: Exploring multi-disciplinary approaches from basic science of valosin containing protein, an AAA+ ATPase protein, to the therapeutic advancement for VCP-associated multisystem proteinopathy.

Peck A et al.

Neurobiology of Disease, 2025

ALS Identified: two-year findings from a sponsored ALS genetic testing program.

Goutman SA et al.

Annals of Clinical and Translational Neurology, 2024

39044379 (PubMed )
Supplement: ACN3-11-2201-s003.xlsx › ClinGen_VariantClassification

Bone scan findings of Paget's disease of bone in patients with VCP Multisystem Proteinopathy 1.

Columbres RCA et al.

Scientific Reports, 2024

Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1.

Columbres RCA et al.

Genes, 2023

Case report of a family with hereditary inclusion body myopathy with VCP gene variant and literature review.

Asadauskaitė G et al.

Frontiers in Neurology, 2023

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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."