Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.I137V
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PMP22

NM_000304.4:p.I137V

Associated Papers

Disrupting the transmembrane domain interface between PMP22 and MPZ causes peripheral neuropathy.

Pashkova N et al.

Iscience, 2024

Disrupting the transmembrane domain interface between PMP22 and MPZ causes peripheral neuropathy.

Pashkova N et al.

Biorxiv : the Preprint Server for Biology, 2024

Peripheral myelin protein 22 preferentially partitions into ordered phase membrane domains.

Marinko JT et al.

Proceedings of the National Academy of Sciences of the United States of America, 2020

A Computational Approach to Identify a Potential Alternative Drug With Its Positive Impact Toward PMP22.

Agrahari AK et al.

Journal of Cellular Biochemistry, 2017

Conformational Stability and Pathogenic Misfolding of the Integral Membrane Protein PMP22.

Schlebach JP et al.

Journal of the American Chemical Society, 2015

Recessive, but not dominant, mutations in peripheral myelin protein 22 gene show unique patterns of aggregation and intracellular trafficking.

Liu N et al.

Neurobiology of Disease, 2004

Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.

Nelis E et al.

Human Mutation, 1999

Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.

Bort S et al.

Human Genetics, 1997

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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."