Homozygous splice-site variant in ENPP1 underlies generalized arterial calcification of infancy by Hafiza Noor Ul Ayan, Yvonne Nitschke, Abdul Razzaq Mughal, Holger Thiele, Naveed Altaf Malik, Ijaz Hussain, Syed Muhammad Ijlal Haider, Frank Rutsch, Jeanette Erdmann, Muhammad Tariq, Zouhair Aherrahrou, Ilyas Ahmad

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A novel cryptic splice donor due to synonymous variant in VPS13A as an underlying cause of a chorea-acanthocytosis in a large family by Majed Alluqmani, Shahid Iqbal, Sulman Basit

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A novel RUNX2 splice site mutation in Chinese associated with cleidocranial dysplasia by Jing Wang, Qiuying Li, Hongyu Li, Xiu Liu, Ying Hu, Yuxing Bai, Kai Yang

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Characterization of a WAS splice-site variant in a patient with Wiskott-Aldrich syndrome by Elisabetta Toriello, Rosa Maritato, Antonio De Rosa, Maria Valeria Esposito, Carla Damiano, Carla Damiano, Carmen Rosano, Emilia Cirillo, Antonietta Tarallo, Antonietta Tarallo, Cosimo Abagnale, Francesca Cillo, Roberta Romano, Laura Grilli, Marika Comegna, Marika Comegna, Giancarlo Blasio, Giancarlo Parenti, Giancarlo Parenti, Enrico Maria Surace, Giuseppe Castaldo, Giuseppe Castaldo, Claudio Pignata, Giuliana Giardino

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Characterization of a novel AEL allele harboring a c.28 + 5G>A mutation on the ABO*A2.01 background: a study utilizing PacBio third-generation sequencing and functional assays by Lin-Nan Shao, Wen-Qian Song, Lu Zhou, Ling-Zi Pan, Ying Duan, Nan Xiao, Shi-Hang Zhou, Xiao-Hua Liang

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Pathogenesis of acephalic spermatozoa syndrome caused by PMFBP1 mutation by Huaqiang Xia, Juan Zhang, Wuyuan Mao, Kangle Yi, Teng Wang, Lingyan Liao

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Increased Phenotype Severity Associated with Splice-Site Variants in a Hungarian Pediatric Neurofibromatosis 1 Cohort: A Retrospective Study by Klára Veres, Benedek Nagy, Zsófia Ember, Judit Bene, Kinga Hadzsiev, Márta Medvecz, László Szabó, Zsuzsanna Zsófia Szalai

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The golden genome annotation of Ganoderma lingzhi reveals a more complex scenario of eukaryotic gene structure and transcription activity by Lining Wang, Peiqi Shi, Zhaohua Ping, Qinghua Huang, Liqun Jiang, Nianfang Ma, Qingfu Wang, Jiang Xu, Yajie Zou, Zhihai Huang

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