Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.L146P
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PLP1

NM_000533.5:p.L146P

Associated Papers

Generation of the human induced pluripotent stem cell line (ZJUi005-A) from a patient with Pelizaeus-Merzbacher disease (PMD) carrying a novel hemizygous mutation in PLP1 gene.

Liu B et al.

Stem Cell Research, 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."