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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MAPT

Variant:p.S697_V698Splc

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MAPT

NM_001377265.1:p.S697_V698Splc

hg38:chr17:46010404 T>A

Associated Papers

The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.

Orvisky E et al.

Human Mutation, 2002

11933202 (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."