Human induced pluripotent stem cell line (FDHSi005-A) derived from a patient with a deep intronic variant in the GNE gene by Kexin Jiao, Jialong Zhang, Ningning Wang, Xingyu Gu, Xuechun Chang, Xingyu Xia, Bochen Zhu, Mingshi Gao, Nachuan Cheng, Chongbo Zhao, Jianying Xi, Wenhua Zhu

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Novel Phenotypes and Deep Intronic Variant Expand TH‐Associated Dopa‐Responsive Dystonia Spectrum by Xiaosheng Zheng, Chenxin Ying, Nan Jin, Jinghong Ma, Xinhua Wan, Xunhua Li, Wei Luo

Subjects: “…deep intronic variant…”
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Whole-genome sequencing, as a powerful diagnostic tool in hearing loss, reveals novel variants in PTPRQ missed by whole-exome sequencing by Daniel Bengl, Asuman Koparir, Wahyu Eka Prastyo, Christian Remmele, Marcus Dittrich, Sophie Flandin, Waafa Shehata-Dieler, Clemens Grimm, Thomas Haaf, Michaela A. H. Hofrichter

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Functional analysis of a novel FBN1 deep intronic variant causing Marfan syndrome in a Chinese patient by Qingming Wang, Fang Zhang, Xinlong Zhou, Hui Li, Juan Zhao, Haiming Yuan

Subjects: “…deep intronic variant…”
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A recurrent ABCC2 c.2439 + 5G > A variant disturbs mRNA splicing and causes Dubin-Johnson syndrome by Rongyue Sun, Ting Zhu, Tingmin Zhou, Yanzhao Luo, Tiantian Jiang, Chuangjie Gu, Ruiting Wu, Yue Wang, Fengzhen Xu, Shikang Fan, Dan wang, Yiming Chen

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Phenotypic study of humanized mice carrying the PAH deep intronic variant c.1199+502A>T by Chuan Zhang, Yousheng Yan, Bingbo Zhou, Huimin Gao, Xiaohua Jin, Ling Hui, Shengju Hao, Zongfu Cao, Xu Ma

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Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing by Thomas Cassini, Sarah Silverstein, Molly Behan, Cynthia J. Tifft, May Christine Malicdan, David R. Adams, Undiagnosed Diseases Network, Sun‐Young Ahn, Debra S. Regier

Subjects: “…intronic variant…”
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A novel intronic variant in the ASAH1 gene enhances aberrant splicing, causing spinal muscular atrophy with progressive myoclonic epilepsy by Jinli Bai, Ping Li, Hui Jiao, Yuwei Jin, Hong Wang, Qinglin Jiang, Fang Song, Xiaoyin Peng, Yujin Qu

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Identification and splicing analysis of the first deep intronic FIG4 variant causing Yunis–Varon syndrome by Hui Tang, Qingqing Chen, Jingjing Xiang, Qin Zhang

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COL4A5 Intronic Variants at Third to Fifth Nucleotides Cause Alport Syndrome by Hideaki Kitakado, Tomoko Horinouchi, Shuhei Aoyama, Yuka Kimura, Yuta Inoki, Yu Tanaka, Chika Ueda, Yuya Aoto, Nana Sakakibara, China Nagano, Tomohiko Yamamura, Shingo Ishimori, Rini Rossanti, Masafumi Matsuo, Kandai Nozu

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Case Report: Whole genome sequencing identifies a novel deep intronic COL4A5 variant of uncertain significance in X-linked Alport syndrome by Hoon Seok Kim, Hoon Seok Kim, Myungshin Kim, Myungshin Kim, Jin-Soon Suh, Yeonhee Lee

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An ALG12-CDG patient with a novel homozygous intronic mutation associated with low ALG12 mRNA by Sandrine Vuillaumier-Barrot, Thierry Dupré, Tiffany Andriantsihoarana, Vincent Desportes, David Cheillan, Stuart E. H. Moore, Isabelle Chantret

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Molecular assessment of splicing variants in a cohort of patients with inborn errors of immunity: methodological approach and interpretation remarks by Laura Miguel Berenguel, Carla Gianelli, Carla Gianelli, Carla Gianelli, Elisabet Matas Pérez, Teresa del Rosal, Ana Méndez Echevarría, Ángel Robles Marhuenda, Marta Feito Rodríguez, Maria Teresa Caballero Molina, Maria Teresa Caballero Molina, Lorena Magallares García, Brenda Sánchez Garrido, Samantha Hita Díaz, Luis Allende Martínez, Luis Allende Martínez, Pilar Nozal Aranda, Pilar Nozal Aranda, Pilar Nozal Aranda, Carmen Cámara Hijón, Carmen Cámara Hijón, Carmen Cámara Hijón, Eduardo López Granados, Eduardo López Granados, Eduardo López Granados, Rebeca Rodríguez Pena, Rebeca Rodríguez Pena, Rebeca Rodríguez Pena, María Bravo García-Morato, María Bravo García-Morato, María Bravo García-Morato

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