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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDIA6

Variant:p.R235delFs

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PDIA6

NM_005742.4:p.R235delFs

hg38:chr2:10789885 CT>C

Associated Papers

Clinical and Molecular Heterogeneity Underlying Monogenic Causes of Pediatric Diabetes Associated to Brain Developmental Disorders.

Di Pasquale G et al.

Clinical Genetics, 2025

40970566 (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."