The tale of two genes: from next-generation sequencing to phenotype
Sign Up to like & getrecommendations! Published in 2020 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a004846
Abstract: An 18-yr-old man with a history of intellectual disability, craniofacial dysmorphism, seizure disorder, and obesity was identified to carry a de novo, pathogenic variant in ASXL1 (c.4198G>T; p.E1400X) associated with the diagnosis of Bohring–Opitz syndrome… read more here.
Keywords: tale two; genes next; next generation; generation sequencing ... See more keywords