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V is for valine – VARS mutations in epileptic encephalopathy

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常見vars gene mutation問答

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延伸文章資訊
V is for valine – VARS mutations in epileptic encephalopathy |

The VARS phenotype. Bi-allelic pathogenic VARS variants result in prominent global developmental ...

VARS gene a new link to a harrowing group of brain diseases |

A defect in the VARS gene, previously unlinked to any human disease, resulted in a genetic kind o...

Loss of function mutations in VARS encoding ... |

VARS mutations produce severe neurological implications, illustrating the essential nature of thi...

VARS2-linked mitochondrial encephalopathy |

Bi-allelic variants of VARS2, a nuclear gene encoding for valyl-tRNA (Val-tRNA) synthetase, are a...

Biallelic Mutations Causing Rare Pediatric Brain Disorder VARS |

Investigators studied patients from 5 unrelated families to determine the genetic mutations causi...


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