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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PPT1

Variant:p.G145Splc

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PPT1

NM_000310.4:p.G145Splc

hg38:chr1:40089514 T>A

Associated Papers

The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants.

Noureldeen MM et al.

Italian Journal of Pediatrics, 2025

40514726 (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."