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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DNASE2

Variant:p.G125A

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DNASE2

NM_001375.3:p.G125A

hg38:chr19:12878807 C>G

Associated Papers

Type I interferon-mediated autoinflammation due to DNase II deficiency.

Rodero MP et al.

Nature Communications, 2017

29259162 (PubMed )

Supplement: 41467_2017_1932_MOESM1_ESM.pdf

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