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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SI

Variant:p.Q748insFs

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SI

NM_001041.4:p.Q748insFs

hg38:chr3:165039888 T>TG

Associated Papers

A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn.

Kroos MA et al.

Neuromuscular Disorders : Nmd, 2004

15145338 (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."