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Publication

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

Journal Contribution - Journal Article

Journal: GENETICS IN MEDICINE
ISSN: 1098-3600
Issue: 8
Volume: 21
Pages: 1761 - 1771
Publication year:2019