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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:G6PC3

Variant:p.W320delFs

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G6PC3

NM_138387.4:p.W320delFs

hg38:chr17:44075960 TG>T

Associated Papers

Successful use of empagliflozin to treat neutropenia in two G6PC3-deficient children: Impact of a mutation in SGLT5.

Boulanger C et al.

Journal of Inherited Metabolic Disease, 2022

35506446 (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."