Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis.
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Genome Res. 2011 Apr 12. [Epub ahead of print]
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Curr Opin Pediatr. 2011 Apr 13. [Epub ahead of print]
Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.
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J Med Genet. 2011 Apr 14. [Epub ahead of print]
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Hum Mol Genet. 2011 Apr 15. [Epub ahead of print]