SLC1A4mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum
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Title
SLC1A4mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum
Authors
Keywords
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Journal
CLINICAL GENETICS
Volume 88, Issue 4, Pages 327-335
Publisher
Wiley
Online
2015-07-03
DOI
10.1111/cge.12637
References
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Note: Only part of the references are listed.- A homozygous mutation inSLC1A4in siblings with severe intellectual disability and microcephaly
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- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- 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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- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
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