Comment on Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1.
作者信息
Pacot Laurence, Chansavang Albain, Jacques Sébastien, Laurendeau Ingrid, Hadjadj Djihad, Ferkal Salah, Wolkenstein Pierre, Vidaud Dominique, Pasmant Eric
机构信息
Fédération de Génétique et Médecine Génomique, Hôpital Cochin, DMU BioPhyGen, AP-HP.Centre-Université Paris Cité, Paris, France.
Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.
出版信息
Eur J Hum Genet. 2023 Apr;31(4):380-382. doi: 10.1038/s41431-023-01304-0. Epub 2023 Feb 3.
Abstract
摘要
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