Varaico: Literature-Extracted Genetic Variants

Gene:VCP
Variant:p.I216M
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VCP

NM_007126.5:p.I216M

Associated Papers

Valosin containing protein (VCP): initiator, modifier, and potential drug target for neurodegenerative diseases.

Chu S et al.

Molecular Neurodegeneration, 2023

FYCO1 Increase and Effect of Arimoclomol-Treatment in Human VCP-Pathology.

Guettsches AK et al.

Biomedicines, 2022

The Cure VCP Scientific Conference 2021: Molecular and clinical insights into neurodegeneration and myopathy linked to multisystem proteinopathy-1 (MSP-1).

Johnson MA et al.

Neurobiology of Disease, 2022

35405261 (PubMed )
Supplement: NIHMS1812088-supplement-1.pdf

Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population.

Cerino M et al.

Genes, 2022

35741838 (PubMed )
Supplement: genes-13-01076-s001.zip › genes-1739915-supplementary › Supplementary_Material › Supplementary_Table_S1.pdf
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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."