Associated Papers
Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity.
Chelleri C et al.
Human Mutation, 2023
40225171 (PubMed )
Supplement: 3160653.f1.zip › Table_S1.pdf
Whole Exome Sequencing Identifies a Novel Pathogenic RET Variant in Hirschsprung Disease.
Wu W et al.
Frontiers in Genetics, 2018
30693022 (PubMed )
Supplement: Table_1.xlsx › 19.dominant.variant
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