Co-occurrence of homozygous ALMS1 variant, 17q11.2 mosaic and germline deletions, and VSX2 nonsense variant in a single family
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Date
Journal Title
Journal ISSN
Volume Title
dc.identifier.issn
dc.identifier.doi
10.1007/s11033-025-11058-1
dc.identifier.other
WOS:001577796000004
dc.description.volume
dc.description.issue
Publisher
SPRINGER
DOI
10.1007/s11033-025-11058-1