Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.T44S
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PMP22

NM_000304.4:p.T44S

Associated Papers

Specific Deoxyceramide Species Correlate with Expression of Macular Telangiectasia Type 2 (MacTel2) in a SPTLC2 Carrier HSAN1 Family.

Wilson LMQ et al.

Genes, 2023

Demyelination in hereditary sensory neuropathy type-1C.

Saba S et al.

Annals of Clinical and Translational Neurology, 2020

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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."