NARA Discovery
Article Details
← Back to Search Results
Journal Article

A novel pathogenic synonymous DHCR7 variant unveiled by aberrant splicing in Smith-Lemli-Opitz syndrome

Yan Zhou; Qin Zhang; Quanze He; Guohua Yang; Haibo Li; Yu An
Human Genetics · Vol. 145, Issue 1 · 2026
View Full Text Download RIS Journal Homepage

Abstract

Abstract is unavailable.

Bibliographic Information

JournalHuman Genetics
PublisherSpringer
Publication Date2026-12-01
Publication Year2026
Volume145
Issue1
Document TypeJournal Article
Print ISSN0340-6717
eISSN1432-1203
DOI10.1007/s00439-026-02853-2

Access Information

NARA Access Coverage1964-01-01~Current
Journal Homepagehttps://www.springer.com/journal/439
Publisher PageOpen Publisher Page
Full-text access depends on NARA's subscribed coverage and institutional access.