Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.A135T
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PMP22

NM_000304.4:p.A135T

Associated Papers

A scalable approach to resolving variants of uncertain significance.

Tejura M et al.

Biorxiv : the Preprint Server for Biology, 2026

41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP

Charcot-Marie-Tooth disease type 1E: clinical natural history and molecular impact of PMP22 variants.

Ward KS et al.

Brain : a Journal of Neurology, 2025

Charcot-Marie-Tooth disease type 1E: Clinical Natural History and Molecular Impact of PMP22 Variants.

Ward KS et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

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

Agrahari AK et al.

Journal of Cellular Biochemistry, 2017

Computational Analysis Reveals the Association of Threonine 118 Methionine Mutation in PMP22 Resulting in CMT-1A.

Kumar CV et al.

Advances in Bioinformatics, 2014

Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines.

Chang H et al.

Plos One, 2011

21701589 (PubMed )
Supplement: pone.0021097.s002.xls › a2780_f40r3
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