Validation and Classification of Atypical Splicing Variants Associated With Osteogenesis Imperfecta-Reference-Cited by-同舟云学术

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Validation and Classification of Atypical Splicing Variants Associated With Osteogenesis Imperfecta

Published:2019-10-18 Issue: Volume:10 Page:
ISSN:1664-8021
Container-title:Frontiers in Genetics
language:
Short-container-title:Front. Genet.

Author:

Li Lulu,Cao Yixuan,Zhao Feiyue,Mao Bin,Ren Xiuzhi,Wang Yanzhou,Guan Yun,You Yi,Li Shan,Yang Tao,Zhao Xiuli

Funder

National Natural Science Foundation of China

Publisher

Frontiers Media SA

Subject

Genetics(clinical),Genetics,Molecular Medicine

Reference37 articles.

1. Splicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenic;Ahlborn;Breast Cancer Res. Treat.,2015

2. Recessively inherited forms of osteogenesis imperfecta;Byers;Annu. Rev. Genet.,2012

3. Use of minigene systems to dissect alternative splicing elements;Cooper;Methods,2005

4. Osteogenesis imperfecta;Forlino;Lancet,2016

5. Minigene splicing assays identify 12 spliceogenic variants of BRCA2 exons 14 and 15;Fraile-Bethencourt;Front. Genet.,2019

Cited by 10 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Crispr-Based Editing of Human Pluripotent Stem Cells for Disease Modeling;Stem Cell Reviews and Reports;2024-04-02

2. COL1A1 novel splice variant in osteogenesis imperfecta and splicing variants review: A case report;Frontiers in Surgery;2022-09-15

3. The alternative matrisome: Alternative splicing of ECM proteins in development, homeostasis and tumor progression;Matrix Biology;2022-08

4. Perthes Disease in a Child With Osteogenesis Imperfecta From a Rare Genetic Variant: A Case Report;Frontiers in Genetics;2022-07-08

5. Novel De Novo TBL1XR1 Variant Causing PIERPONT Syndrome in an Indian Child: A Case Report and Genotype–Phenotype Review of Reported Patients;Journal of Pediatric Neurology;2022-04-22

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