PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. (2018)

First Author: Reijnders MRF
Attributed to:  Automated phenotyping to accurately infer functional variants in clinical genetics funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1136/jmedgenet-2017-104946

PubMed Identifier: 29097605

Publication URI: http://europepmc.org/abstract/MED/29097605

Type: Journal Article/Review

Volume: 55

Parent Publication: Journal of medical genetics

Issue: 2

ISSN: 0022-2593