Whole-Exome Sequencing Identified Two Novel Pathogenic Mutations in the PTCH1 Gene in BCNS

Pál Margit and Vetró Éva and Nagy Nikoletta and Nagy Dóra and Ferdinandyné Horváth Emese and Bokor Barbara Anna and Varga Anita and Seres László and Oláh Judit Magdolna and Piffkó József and Széll Márta: Whole-Exome Sequencing Identified Two Novel Pathogenic Mutations in the PTCH1 Gene in BCNS.
CURRENT ISSUES IN MOLECULAR BIOLOGY, 45 (7). pp. 5293-5304. ISSN 1467-3037 (2023)

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Item Type: Journal Article
Journal or Publication Title: CURRENT ISSUES IN MOLECULAR BIOLOGY
Date: 2023
Volume: 45
Number: 7
Page Range: pp. 5293-5304
ISSN: 1467-3037
Faculty/Unit: Albert Szent-Györgyi Medical School
Institution: Szegedi Tudományegyetem
Language: English
MTMT rekordazonosító: 34035935
DOI azonosító: https://doi.org/10.3390/cimb45070336
Date Deposited: 2024. Mar. 13. 08:58
Last Modified: 2024. Mar. 13. 08:58
URI: http://publicatio.bibl.u-szeged.hu/id/eprint/29846
Web of Science® Times Cited: 1 View citing articles in Web of Science®

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