P569: Identification of a novel, deep-intronic alteration in KDM6A: How a multi-omics approach ended a 10+ year diagnostic odyssey*

التفاصيل البيبلوغرافية
العنوان: P569: Identification of a novel, deep-intronic alteration in KDM6A: How a multi-omics approach ended a 10+ year diagnostic odyssey*
المؤلفون: Matthew Tedder, Jessica Cooley Coleman, Anna Childers, Jennifer Kerkhof, Raymond Louie, Jennifer Lee, Michael Friez, Bekim Sadikovic, David Everman, Richard Rogers, Raymond Caylor
المصدر: Genetics in Medicine Open. 1:100616
بيانات النشر: Elsevier BV, 2023.
سنة النشر: 2023
تدمد: 2949-7744
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::abea8f995c19c19b46c0ced9e18925abTest
https://doi.org/10.1016/j.gimo.2023.100616Test
حقوق: OPEN
رقم الانضمام: edsair.doi...........abea8f995c19c19b46c0ced9e18925ab
قاعدة البيانات: OpenAIRE