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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLP1

Variant:p.G2delFs

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PLP1

NM_000533.5:p.G2delFs

hg38:chrX:103776997 TG>T

Associated Papers

Suppression of proteolipid protein rescues Pelizaeus-Merzbacher disease.

Elitt MS et al.

Nature, 2020

32610343 (PubMed )

Supplement: NIHMS1606926-supplement-2.pdf

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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."