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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRKACA

Variant:p.G2insFs

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PRKACA

NM_002730.4:p.G2insFs

hg38:chr19:14117542 G>GC

Associated Papers

Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.

Wallis M et al.

Orphanet Journal of Rare Diseases, 2024

39095811 (PubMed )

Supplement: 13023_2024_3297_MOESM1_ESM.docx

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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."