Novel compound heterozygous mutations for lipoprotein lipase deficiency: a G-to-T transversion at the first position of exon 5 causing G154V missense mutation and a 5′ splice site... by Yasuyuki Ikeda, Atsuko Takagi, Yuusei Nakata, Yasuhiko Sera, Sumio Hyoudou, Kazuko Hamamoto, Yoshikazu Nishi, Akira Yamamoto

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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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Identification of a novel splice site mutation in the DNAAF4 gene of a Chinese patient with primary ciliary dyskinesia by Yang Xu, Jing Wang, Ji-Hai Liu, Qing-Qiang Gao, Bing Wang, Zhi-Peng Xu

Subjects: “…dnaaf; primary ciliary dyskinesia; scoliosis; splice site…”
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A genetic screen in Arabidopsis reveals the identical roles for RBP45d and PRP39a in 5’ cryptic splice site selection by Weihua Huang, Liqun Zhang, Yajuan Zhu, Jingli Chen, Yawen Zhu, Fengru Lin, Xiaomei Chen, Jirong Huang

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A Novel PRKAR1A Mutation Identified in a Patient with Isolated Primary Pigmented Nodular Adrenocortical Disease by Sira Korpaisarn, Objoon Trachoo, Bhakbhoom Panthan, Rangsima Aroonroch, Ronnarat Suvikapakornkul, Chutintorn Sriphrapradang

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Human-specific protein isoforms produced by novel splice sites in the human genome after the human-chimpanzee divergence by Kim Dong Seon, Hahn Yoonsoo

Subjects: “…Splice site…”
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Splice site prediction research based on location information by Wei Bin, Zhang Mingshu, Niu Yaqiong, Sun Yandong

Subjects: “…splice site…”
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Disrupted minor intron splicing is prevalent in Mendelian disorders by Anouk M. Olthof, Jeffrey S. Rasmussen, Philippe M. Campeau, Rahul N. Kanadia

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Predicting DNA sequence splice site based on graph convolutional network and DNA graph construction by Luo Rentao, Li Yelin, Guan Lixin, Li Mengshan

Subjects: “…Splice Site…”
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Widespread Separation of the Polypyrimidine Tract From 3′ AG by G Tracts in Association With Alternative Exons in Metazoa and Plants by Hai Nguyen, Hai Nguyen, Jiuyong Xie

Subjects: “…3′ splice site…”
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Phenotypic variability within the desminopathies: A case series of three patients by Dennis Yeow, Matthew Katz, Robert Henderson, Sandhir Prasad, Russell Denman, Stefan Blum, Mark Davis, Thomas Robertson, Pamela McCombe

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Novel Splice Site Mutation in the <i>PROS1</i> Gene in a Polish Patient with Venous Thromboembolism: c.602-2delA, Splice Acceptor Site of Exon 7 by Magdalena Mrożek, Ewa Wypasek, Martine Alhenc-Gelas, Daniel P. Potaczek, Anetta Undas

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RET splice site variants in medullary thyroid carcinoma by Daryoush Saeed-Vafa, Kyriakos Chatzopoulos, Juan Hernandez-Prera, Pedro Cano, James J. Saller, Julie E. Hallanger Johnson, Bryan McIver, Theresa A. Boyle

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Loss-of-Function Variants in the SYNPO2L Gene Are Associated With Atrial Fibrillation by Alexander Guldmann Clausen, Oliver Bundgaard Vad, Julie Husted Andersen, Morten Salling Olesen, Morten Salling Olesen

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A novel homozygous splice site variant in the CLCN7 causes osteopetrosis by Zeinab Klaab, Abeer Al Tuwaijri, Muhammad Umair, Badr Aldahmash, Majid Alfadhel

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Case report: KPTN gene-related syndrome associated with a spectrum of neurodevelopmental anomalies including severe epilepsy by Svea Horn, Svea Horn, Magdalena Danyel, Magdalena Danyel, Nina Erdmann, Nina Erdmann, Felix Boschann, Felix Boschann, Cecilia Gunnarsson, Cecilia Gunnarsson, Cecilia Gunnarsson, Saskia Biskup, Jerome Juengling, Cornelia Potratz, Cornelia Potratz, Christine Prager, Christine Prager, Angela M. Kaindl, Angela M. Kaindl, Angela M. Kaindl

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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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Abnormal splicing of ABCA1 pre-mRNA in Tangier disease due to a IVS2 +5G>C mutation in ABCA1 gene by Serena Altilia, Livia Pisciotta, Rita Garuti, Patrizia Tarugi, Alfredo Cantafora, Laura Calabresi, Jacopo Tagliabue, Sergio Maccari, Franco Bernini, Ilaria Zanotti, Carlo Vergani, Stefano Bertolini, Sebastiano Calandra

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A Bidirectional LSTM-RNN and GRU Method to Exon Prediction Using Splice-Site Mapping by Peren Jerfi CANATALAY, Osman Nuri Ucan

Subjects: “…splice site…”
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Molecular investigation in Chinese patients with primary carnitine deficiency by Yanghui Zhang, Haoxian Li, Jing Liu, Huiming Yan, Qin Liu, Xianda Wei, Hui Xi, Zhengjun Jia, Lingqian Wu, Hua Wang

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