Exome sequencing reveals a novelCWF19L1mutation associated with intellectual disability and cerebellar atrophy
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Title
Exome sequencing reveals a novelCWF19L1mutation associated with intellectual disability and cerebellar atrophy
Authors
Keywords
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Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 170, Issue 6, Pages 1502-1509
Publisher
Wiley
Online
2016-03-26
DOI
10.1002/ajmg.a.37632
References
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Related references
Note: Only part of the references are listed.- Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy
- (2015) Minh Nguyen et al. EUROPEAN JOURNAL OF HUMAN GENETICS
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- (2012) Hashem A. Shihab et al. HUMAN MUTATION
- Predicting the Functional Effect of Amino Acid Substitutions and Indels
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- (2011) Boris Reva et al. NUCLEIC ACIDS RESEARCH
- Systematic Two-Hybrid and Comparative Proteomic Analyses Reveal Novel Yeast Pre-mRNA Splicing Factors Connected to Prp19
- (2011) Liping Ren et al. PLoS One
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- MutationTaster evaluates disease-causing potential of sequence alterations
- (2010) Jana Marie Schwarz et al. NATURE METHODS
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- The Sequence Alignment/Map format and SAMtools
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- Fast and accurate short read alignment with Burrows-Wheeler transform
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- Identification of deleterious mutations within three human genomes
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