Associated Papers
A case of severe Aicardi-Goutières syndrome with a homozygous RNASEH2B intronic variant.
Shibata Y et al.
Human Genome Variation, 2024
A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe Islands.
Ostergaard E et al.
Acta Paediatrica (oslo, Norway : 1992), 2012
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