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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TPP1

Variant:p.Q338E

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TPP1

NM_000391.4:p.Q338E

hg38:chr11:6616378 G>C

Associated Papers

Aberrant splicing and transcriptional activity of TPP1 result in CLN2-like disorder.

Helman G et al.

European Journal of Medical Genetics, 2021

34126256 (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."