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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:APC

Variant:p.T288A

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APC

NM_000038.6:p.T288A

hg38:chr5:112815522 A>G

Associated Papers

Molecular and Phenotypic Characterization of Nine Patients with STAT1 GOF Mutations in China.

Chen X et al.

Journal of Clinical Immunology, 2020

31686315 (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."