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Novel Insights into Pontocerebellar Hypoplasia Type 3: Discovery of a New Disease-causing PCLO Variant and Development of a CRISPR-generated Cell Model : Novel Insights into Pontocerebellar Hypoplasia Type 3.

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Bibliographic Details
Title: Novel Insights into Pontocerebellar Hypoplasia Type 3: Discovery of a New Disease-causing PCLO Variant and Development of a CRISPR-generated Cell Model : Novel Insights into Pontocerebellar Hypoplasia Type 3.
Authors: Baneshi M; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.; Department of Medical Biotechnology, School of Advanced Medical Sciences and Technologies, Shiraz University of Medical Sciences, Shiraz, Iran., Mohammadi S; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran., Jafari Khamirani H; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.; Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran., Fallahi J; Department of Molecular Medicine, Shiraz University of Medical Sciences, Shiraz, Iran., Dara M; Stem Cells Technology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran., Tabei FS; Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran., Ranjbar M; Department of Medical Biotechnology, School of Advanced Medical Sciences and Technologies, Shiraz University of Medical Sciences, Shiraz, Iran., Bagher Tabei SM; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.; Maternal-fetal Medicine Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Source: Galen medical journal [Galen Med J] 2025 Aug 10; Vol. 14, pp. e3727. Date of Electronic Publication: 2025 Aug 10 (Print Publication: 2025).
Publication Type: Journal Article
Journal Info: Publisher: Salvia Medical Sciences Ltd. incorporation with SalviaPub Country of Publication: Iran NLM ID: 101625418 Publication Model: eCollection Cited Medium: Internet ISSN: 2322-2379 (Electronic) Linking ISSN: 23222379 NLM ISO Abbreviation: Galen Med J Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:2322-2379
DOI:10.31661/gmj.v14i.3727