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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP5F1B

Variant:p.E175_M176delFs

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ATP5F1B

NM_001686.4:p.E175_M176delFs

hg38:chr12:56643917 ATT>A

Associated Papers

Pompe's Disease Successfully Treated In Utero.

Unknown Author

American Journal of Medical Genetics. Part A, 2023

36775951 (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."