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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ZAP70

Variant:p.C510_I511insFs

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ZAP70

NM_001079.4:p.C510_I511insFs

hg38:chr2:97737800 A>AATGC

Associated Papers

Novel Compound Heterozygous Mutations in ZAP70 Leading to a SCID Phenotype with Normal Downstream In vitro Signaling.

Kaman K et al.

Journal of Clinical Immunology, 2021

33184721 (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."