ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants
Publication year
2019Source
Genetics in Medicine, 21, 8, (2019), pp. 1761-1771ISSN
Publication type
Article / Letter to editor

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Organization
Human Genetics
Journal title
Genetics in Medicine
Volume
vol. 21
Issue
iss. 8
Page start
p. 1761
Page end
p. 1771
Subject
All institutes and research themes of the Radboud University Medical Center; Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical NeuroscienceThis item appears in the following Collection(s)
- Academic publications [234204]
- Electronic publications [117151]
- Faculty of Medical Sciences [89179]
- Open Access publications [84184]
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