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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PIK3CD

Variant:p.W532delFs

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PIK3CD

NM_005026.5:p.W532delFs

hg38:chr1:9720814 TG>T

Associated Papers

Targeted RNAseq Improves Clinical Diagnosis of Very Early-Onset Pediatric Immune Dysregulation.

Berger K et al.

Journal of Personalized Medicine, 2022

35743704 (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."