Open AccessThe road from mutation to next generation phenotyping: contribution of deep learning technology (Face2Gene) to diagnosis neurofibromatosis type 1
Author(s) -
Muhsin Elmas,
Başak GÖĞÜŞ
Publication year - 2022
Publication title -
the european research journal
Language(s) - English
Resource type - Journals
ISSN - 2149-3189
DOI - 10.18621/eurj.894631
Subject(s) - medicine , neurofibromatosis , medical genetics , mutation , pediatrics , neurofibromatosis type i , disease , nonsense , neurofibromatoses , genetic diagnosis , nonsense mutation , genetic testing , pathology , genetics , missense mutation , gene , biology