A Novel Stop Codon Mutation in Exon 6 (c.508A>T) of <i>TRAPPC2</i> gene in a Patient with X-Linked Spondyloepiphyseal Dysplasia Tarda: A Case Report
HORMONE RESEARCH IN PAEDIATRICS, pp.163-164, 2023 (SCI-Expanded, Scopus)
- Publication Type: Article / Abstract
- Publication Date: 2023
- Journal Name: HORMONE RESEARCH IN PAEDIATRICS
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, Chemical Abstracts Core, EMBASE, Food Science & Technology Abstracts, MEDLINE, SportDiscus
- Page Numbers: pp.163-164
- Hacettepe University Affiliated: Yes