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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ZAP70

Variant:p.Q234_L235Splc

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ZAP70

NM_001079.4:p.Q234_L235Splc

hg38:chr2:97733026 G>C

Associated Papers

Two patients with ZAP-70 deficiency in China present with a different genetic, immunological, and clinical phenotype.

Luo X et al.

Bmc Pediatrics, 2023

37101133 (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."