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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CTRL

Variant:p.T236_V246del11

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CTRL

NM_001907.3:p.T236_V246del11

hg38:chr16:67929990 ACACAGCAGGTGCGCGCACATTGCAGTTTTTGGT>A

Associated Papers

Newborn screening for Pompe disease in Italy: Long-term results and future challenges.

Gragnaniello V et al.

Molecular Genetics and Metabolism Reports, 2022

36310651 (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."