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A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome (2020)

First Author: Cuvertino S

Attributed to: Ciliopathy disease gene identification by whole exome medical resequencing funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1038/s41436-019-0743-3

PubMed Identifier: 31949313

Publication URI: http://europepmc.org/abstract/MED/31949313

Type: Journal Article/Review

Parent Publication: Genetics in Medicine

Issue: 5

ISSN: 1098-3600