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A nonsense mutation (c.382C>T) of PARN in a patient with idiopathic pulmonary fibrosis.

作者信息

Wang Chen-Yu, Liu Lv, Peng Hong, Luo Hong

机构信息

Research Unit of Respiratory Disease, Department of Pulmonary and Critical Care Medicine, Hunan Diagnosis and Treatment Center of Respiratory Disease, The Second Xiangya Hospital, Central South University, No.139, Renming Road, Changsha, 410011, China.

Department of Cell Biology, Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, No.172, Tongzipo Raod, Changsha, 410013, China.

出版信息

QJM. 2024 Aug 1;117(8):605-607. doi: 10.1093/qjmed/hcae069.

DOI:10.1093/qjmed/hcae069
PMID:38614962
Abstract
摘要

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引用本文的文献

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Germline PARN Variants in Telomere Biology Disorders and Challenges in Variant Curation.端粒生物学障碍中的种系PARN变异及变异整理面临的挑战
Mol Genet Genomic Med. 2025 Jun;13(6):e70107. doi: 10.1002/mgg3.70107.