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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PPT1

Variant:p.S156_S157delins

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PPT1

NM_000310.4:p.S156_S157delins

hg38:chr1:40089477 A>G

Associated Papers

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.

Kousi M et al.

Brain : a Journal of Neurology, 2009

19201763 (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."