Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.
Orphanet Journal Of Rare Diseases
Scocchia, Alicia A; Kangas-Kontio, Tiia T; Irving, Melita M; Hero, Matti M; Saarinen, Inka I; Pelttari, Liisa L; Gall, Kimberly K; Valo, Satu S; Huusko, Johanna M JM; Tallila, Jonna J; Sistonen, Johanna J; Koskenvuo, Juha J; Alastalo, Tero-Pekka TP
Publication Date: 2021-10-09
Variant appearance in text: NF1: 5812+332A>G; rs863224491
Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.
Orphanet Journal Of Rare Diseases
Scocchia, Alicia A; Kangas-Kontio, Tiia T; Irving, Melita M; Hero, Matti M; Saarinen, Inka I; Pelttari, Liisa L; Gall, Kimberly K; Valo, Satu S; Huusko, Johanna M JM; Tallila, Jonna J; Sistonen, Johanna J; Koskenvuo, Juha J; Alastalo, Tero-Pekka TP
Publication Date: 2021-10-09
Variant appearance in text: NF1: 5812+332A>G; rs863224491