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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SI

Variant:p.N1396_E1397insG

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SI

NM_001041.4:p.N1396_E1397insG

hg38:chr3:165007992 T>TNNN

Associated Papers

Genotype-phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants.

Hernández-Arévalo P et al.

Orphanet Journal of Rare Diseases, 2021

34020684 (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."