Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.A88G
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PLP1

NM_000533.5:p.A88G

Associated Papers

A novel PLP1 mutation F240L identified in a patient with connatal type Pelizaeus-Merzbacher disease.

Lu Y et al.

Human Genome Variation, 2017

28101371 (PubMed )
Supplement: hgv201644-s1.doc
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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."