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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GEN1

Variant:p.L280delFs

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GEN1

NM_001130009.3:p.L280delFs

hg38:chr2:17772669 TTA>T

Associated Papers

Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.

Samorodnitsky E et al.

Human Mutation, 2015

26110913 (PubMed )

Supplement: HUMU-36-903-s001.zip › humu22825-sup-00017-Table_S23.xlsx › GATK

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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."