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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATM

Variant:p.L2071_G2072ins5

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ATM

NM_000051.4:p.L2071_G2072ins5

hg38:chr11:108317385 T>TNNNNNNNNNNNNNNN

Associated Papers

Seven cases of Pompe disease from Greece.

Kroos M et al.

Journal of Inherited Metabolic Disease, 2006

16838077 (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."