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Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction. (2020)

First Author: Williamson KA

Attributed to: The Northern Ireland Genomic Medicine Centre funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1038/s41436-019-0685-9

PubMed Identifier: 31700164

Publication URI: http://europepmc.org/abstract/MED/31700164

Type: Journal Article/Review

Volume: 22

Parent Publication: Genetics in medicine : official journal of the American College of Medical Genetics

Issue: 3

ISSN: 1098-3600