Associated Papers
A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders.
Parikh JR et al.
Hgg Advances, 2021
34514437 (PubMed )
Supplement: mmc2.xlsx › Sheet1
Novel unconventional variants expand the allelic spectrum of OPHN1 gene.
Nuovo S et al.
American Journal of Medical Genetics. Part A, 2021
Expanding the phenotypic spectrum associated with OPHN1 variants.
Schwartz TS et al.
European Journal of Medical Genetics, 2019
Select a paper to view details