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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:APP

Variant:p.D245D

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APP

NM_000484.4:p.D245D

hg38:chr21:26021970 G>A

Associated Papers

Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia.

Laake K et al.

Human Mutation, 2000

10980530 (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."