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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDX1

Variant:p.Q41_P45insFs

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PDX1

NM_000209.4:p.Q41_P45insFs

hg38:chr13:27920253 G>GGCCGCCAGCCCCC

Associated Papers

Widening the phenotypic spectrum caused by pathogenic PDX1 variants in individuals with neonatal diabetes.

Jeffery N et al.

Bmj Open Diabetes Research & Care, 2024

39542526 (PubMed )

Supplement: bmjdrc-12-6-s001.pdf

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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."