Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.G150V
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PMP22

NM_000304.4:p.G150V

Associated Papers

PMP22-Related Neuropathies: A Systematic Review.

Cesaroni CA et al.

Genes, 2025

41300731 (PubMed )
Supplement: genes-16-01279-s001.zip › Supplementary_Table_S1.xlsx › DSS

Clinical and mutational spectrum of paediatric Charcot-Marie-Tooth disease in a large cohort of Chinese patients.

Ma Y et al.

Frontiers in Genetics, 2023

Clinical and Genetic Diversity of PMP22 Mutations in a Large Cohort of Chinese Patients With Charcot-Marie-Tooth Disease.

Liu X et al.

Frontiers in Neurology, 2020

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Monies D et al.

Human Genetics, 2017

28600779 (PubMed )
Supplement: 439_2017_1821_MOESM1_ESM.xlsx › Sheet2
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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."