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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PPT1

Variant:p.Q97delFs

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PPT1

NM_000310.4:p.Q97delFs

hg38:chr1:40092116 CTG>C

Associated Papers

High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses.

Jilani A et al.

Jimd Reports, 2019

31741823 (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."