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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EBNA1BP2

Variant:p.P43insFs

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EBNA1BP2

NM_006824.3:p.P43insFs

hg38:chr1:43171908 G>GGCAT

Associated Papers

Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers.

Morrone A et al.

Journal of Medical Genetics, 2003

12920095 (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."