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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLP1

Variant:p.G147delFs

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PLP1

NM_000533.5:p.G147delFs

hg38:chrX:103786711 AG>A

Associated Papers

Mild phenotype in Pelizaeus-Merzbacher disease caused by a PLP1-specific mutation.

Osaka H et al.

Brain & Development, 2010

20022439 (PubMed )

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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."