Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy.

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Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy.

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2017 nî lūn-bûn

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2017年論文

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2017年論文

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Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy.

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Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy.

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Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy.

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P1476

Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy

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P2093

A Miyauchi

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A Takata

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G-S Ch'ng

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H Nakajima

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H Osaka

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K W Teik

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M Nakashima

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N Matsumoto

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S Miyatake

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S Yoshitomi

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P2860

Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum

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Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009

Szt2, a novel gene for seizure threshold in mice

KICSTOR recruits GATOR1 to the lysosome and is necessary for nutrients to regulate mTORC1

SZT2 dictates GATOR control of mTORC1 signalling.

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

Detection of nonneutral substitution rates on mammalian phylogenies

P304

266-274

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scholarly article

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10.1111/CGE.13061

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P433

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P478

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2017-09-18T00:00:00Z

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28556953

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