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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ERVFRD-1

Variant:p.Q217R

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ERVFRD-1

NM_207582.3:p.Q217R

hg38:chr6:11104661 T>C

Associated Papers

Clinical and genetic characteristics of diseases caused by CFTR gene mutations in 15 Chinese children: a retrospective analysis.

Bu H et al.

Bmc Pediatrics, 2025

41039378 (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."