Associated Papers
The c.529G>A (p.Ala177Thr) RNASEH2B Gene Pathogenic Variant as a First-Line Genetic Test for Aicardi-Goutières Syndrome: A Case Series of Four Moroccan Families.
Ouhenach M et al.
American Journal of Medical Genetics. Part A, 2025
Characterization of six recombinant human RNase H2 bearing Aicardi-Goutiéres syndrome causing mutations.
Nishimura T et al.
Journal of Biochemistry, 2019
Homologous recombination DNA repair defects in PALB2-associated breast cancers.
Li A et al.
Npj Breast Cancer, 2019
31428676 (PubMed )
Supplement: 41523_2019_115_MOESM1_ESM.pdf
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