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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PPP3CA

Variant:p.E418_S419insFs

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PPP3CA

NM_000944.5:p.E418_S419insFs

hg38:chr4:101032349 A>ACTCT

Associated Papers

Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matter.

Castiglioni S et al.

Orphanet Journal of Rare Diseases, 2024

39707491 (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."