SLC13A5is the second gene associated with Kohlschütter–Tönz syndrome
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Title
SLC13A5is the second gene associated with Kohlschütter–Tönz syndrome
Authors
Keywords
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Journal
JOURNAL OF MEDICAL GENETICS
Volume 54, Issue 1, Pages 54-62
Publisher
BMJ
Online
2016-09-07
DOI
10.1136/jmedgenet-2016-103988
References
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Note: Only part of the references are listed.- Mutations in the Na+/Citrate Cotransporter NaCT (SLC13A5) in Pediatric Patients with Epilepsy and Developmental Delay
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- A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement
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- MutationTaster2: mutation prediction for the deep-sequencing age
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- Ion Channels, Channelopathies, and Tooth Formation
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- (2012) Adi Mory et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome
- (2012) Anna Schossig et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Epileptic encephalopathy and amelogenesis imperfecta: Kohlschütter–Tönz syndrome
- (2012) Anna Schossig et al. European Journal of Medical Genetics
- Kohlschütter-Tönz Syndrome: Mutations inROGDIand Evidence of Genetic Heterogeneity
- (2012) Arianna Tucci et al. HUMAN MUTATION
- A framework for variation discovery and genotyping using next-generation DNA sequencing data
- (2011) Mark A DePristo et al. NATURE GENETICS
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
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- A method and server for predicting damaging missense mutations
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- 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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- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
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