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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TPP1

Variant:p.A448insFs

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TPP1

NM_000391.4:p.A448insFs

hg38:chr11:6615251 A>AG

Associated Papers

Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series.

Wibbeler E et al.

Journal of Child Neurology, 2021

33356800 (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."