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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IRAK4

Variant:p.I299_N300delFs

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IRAK4

NM_016123.4:p.I299_N300delFs

hg38:chr12:43778255 CATCA>C

Associated Papers

IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation.

Nishimura S et al.

Journal of Clinical Immunology, 2021

33083971 (PubMed )

Supplement: 10875_2020_885_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."