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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COPA

Variant:p.K238E

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COPA

NM_004371.4:p.K238E

hg38:chr1:160314120 T>C

Associated Papers

COPA Syndrome from Diagnosis to Treatment: A Clinician's Guide.

Simchoni N et al.

Rheumatic Diseases Clinics of North America, 2023

37821196 (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."