Associated Papers
Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma.
Maciaszek JL et al.
Cold Spring Harbor Molecular Case Studies, 2019
31604778 (PubMed )
Supplement: supp_mcs.a004218_Supplemental_Tables.xlsx › Table_S7
A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings.
Li Z et al.
Journal of Human Genetics, 2015
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