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2.1 Genomic findings Genomic and bioinformatic analyses followed a standardized workflow including QiAamp DNA extraction, Illumina DNA Prep with Exome 2.5 Enrichment, and XLEAP-SBS sequencing at ~100 coverage

doi: 10.3389/fphar.2024.1527901 Received 14 November 2024 Accepted 23 December 2024 Published 09 January 2025 Volume 15 - 2024 Edited by Fatma Mohamady El-Demerdash, Alexandria University, Egypt Reviewed by Nazareno Paolocci, Johns Hopkins University, United States Xinming Yang, Sun Yat-sen University, China Updates Copyright 2025 Liu, Gan, Shen, Cai, Wang, Li, Li, Fu, Chen and Li

This study identified an autosomal dominant vertical transmission pattern

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DOI.org (Crossref), doi:10.1139/apnm-2016-0390

Afterward, patients may either continue with weekly treatments or move to a maintenance schedule based on their unique clinical needs