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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:JAK3

Variant:p.Q507R

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JAK3

NM_000215.4:p.Q507R

hg38:chr19:17838312 T>C

Associated Papers

Spotlight on amino acid changing mutations in the JAK-STAT pathway: from disease-specific mutation to general mutation databases.

Hoffmann M et al.

Scientific Reports, 2025

39979591 (PubMed )

Supplement: 41598_2025_90788_MOESM2_ESM.docx

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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."