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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NUP62

Variant:p.G93S

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NUP62

NM_016553.5:p.G93S

hg38:chr19:49909531 C>T

Associated Papers

Homozygous variant p. Arg90His in NCF1 is associated with early-onset Interferonopathy: a case report.

Schnappauf O et al.

Pediatric Rheumatology Online Journal, 2021

33892719 (PubMed )

Supplement: 12969_2021_536_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."