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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ERCC6L2

Variant:p.Q305E

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ERCC6L2

NM_020207.7:p.Q305E

hg38:chr9:95915792 C>G

Associated Papers

Enrichment of Immune Dysregulation Disorders in Adult Patients with Human Inborn Errors of Immunity.

Segura-Tudela A et al.

Journal of Clinical Immunology, 2024

38363452 (PubMed )

Supplement: 10875_2024_1664_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."