ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants
SourceGenetics in Medicine, 21, 8, (2019), pp. 1761-1771
Article / Letter to editor
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Genetics in Medicine
SubjectAll institutes and research themes of the Radboud University Medical Center; Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience
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