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, ss.163-164, 2023 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Özet
- Basım Tarihi: 2023
- Dergi Adı: HORMONE RESEARCH IN PAEDIATRICS
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, Chemical Abstracts Core, EMBASE, Food Science & Technology Abstracts, MEDLINE, SportDiscus
- Sayfa Sayıları: ss.163-164
- Hacettepe Üniversitesi Adresli: Evet