Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.M1L
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PLP1

NM_000533.5:p.M1L

Associated Papers

De novo mutations in PURA are associated with hypotonia and developmental delay.

Tanaka AJ et al.

Cold Spring Harbor Molecular Case Studies, 2015

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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."