Associated Papers
Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies.
Mattioli F et al.
Genome Medicine, 2025
Identification of sixteen novel candidate genes for late onset Parkinson's disease.
Gialluisi A et al.
Molecular Neurodegeneration, 2021
34148545 (PubMed )
Supplement: 13024_2021_455_MOESM1_ESM.pdf
Sacral agenesis: a pilot whole exome sequencing and copy number study.
Porsch RM et al.
Bmc Medical Genetics, 2016
28007035 (PubMed )
Supplement: 12881_2016_359_MOESM2_ESM.xlsx › all_variants
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