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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CFTR

Variant:p.E1126_G1127ins0

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CFTR

NM_000492.4:p.E1126_G1127ins0

hg38:chr7:117614610 T>TAGGAGA

Associated Papers

Applicability and Efficiency of NGS in Routine Diagnosis: In-Depth Performance Analysis of a Complete Workflow for CFTR Mutation Analysis.

Pagin A et al.

Plos One, 2016

26900683 (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."