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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ENDOU

Variant:p.L206P

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ENDOU

NM_001172439.2:p.L206P

hg38:chr12:47716434 A>G

Associated Papers

Impact of JAK Inhibitors in Pediatric Patients with STAT1 Gain of Function (GOF) Mutations-10 Children and Review of the Literature.

Deyà-Martínez A et al.

Journal of Clinical Immunology, 2022

35486339 (PubMed )

Supplement: 10875_2022_1257_MOESM1_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."