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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SI

Variant:p.F281_M282del2

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SI

NM_001041.4:p.F281_M282del2

hg38:chr3:165063501 CACATAA>C

Associated Papers

Adult Pompe disease: Analysis of 13 patients.

Martín-Jiménez P et al.

Medicina Clinica, 2025

39155212 (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."