Varaico: Literature-Extracted Genetic Variants

Gene:RNASEH2C
Variant:p.V83A
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RNASEH2C

NM_032193.4:p.V83A

Associated Papers

Atypical phenotype? The answer's in the genotype: AGS caused by a novel RNASEH2C variant combined with XLA caused by a BTK deficiency.

Boulanger C et al.

Rheumatology (oxford, England), 2021

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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."