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Title
A study of splicing mutations in disorders of sex development
Authors
Keywords
-
Journal
Scientific Reports
Volume 7, Issue 1, Pages -
Publisher
Springer Nature
Online
2017-11-18
DOI
10.1038/s41598-017-16296-3
References
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Related references
Note: Only part of the references are listed.- Deep intronic mutations and human disease
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- (2016) H. Yadegari et al. BLOOD
- CDH1 Missense Variant c.1679C>G (p.T560R) Completely Disrupts Normal Splicing through Creation of a Novel 5’ Splice Site
- (2016) Zarina Yelskaya et al. PLoS One
- Ensembl 2016
- (2015) Andrew Yates et al. NUCLEIC ACIDS RESEARCH
- Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses
- (2015) Heleen M. van der Klift et al. Molecular Genetics & Genomic Medicine
- The effect of 5α-reductase-2 deficiency on human fertility
- (2014) Hey-Joo Kang et al. FERTILITY AND STERILITY
- A day in the life of the spliceosome
- (2014) A. Gregory Matera et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- Clinical and molecular spectrum of patients with 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency
- (2013) Carla Cristina Telles de Sousa Castro et al. Arquivos Brasileiros de Endocrinologia e Metabologia
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- (2013) Matthew R. Gazzara et al. METHODS
- Evolutionary Constraint Helps Unmask a Splicing Regulatory Region in BRCA1 Exon 11
- (2012) Michela Raponi et al. PLoS One
- SpliceAid 2: A database of human splicing factors expression data and RNA target motifs
- (2011) Francesco Piva et al. HUMAN MUTATION
- Evolution of SR protein and hnRNP splicing regulatory factors
- (2011) Anke Busch et al. Wiley Interdisciplinary Reviews-RNA
- Novel roles of U1 snRNP in alternative splicing regulation
- (2010) Emanuele Buratti et al. RNA Biology
- Spliceosome Structure and Function
- (2010) C. L. Will et al. Cold Spring Harbor Perspectives in Biology
- Missed threads. The impact of pre-mRNA splicing defects on clinical practice
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- Splicing regulation: From a parts list of regulatory elements to an integrated splicing code
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