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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AMPD2

Variant:p.R62_D66delFs

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AMPD2

NM_001368809.2:p.R62_D66delFs

hg38:chr1:109625393 TGCGCACGTCTATG>T

Associated Papers

ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.

Schlüter A et al.

Genome Medicine, 2023

37679823 (PubMed )

Supplement: 13073_2023_1214_MOESM1_ESM.pdf

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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."