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Ulsan Univ. Repository Journal Papers Medicine Medicine

Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders

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Author(s): 김민지; 서고훈; 염미선; 이예나; 장한나; 고태성; 이범희

Issued Date: 2020

Type: Article

Keyword: whole exome sequencing; rare genetic diseases; neurogenetic disorders; congenital myasthenic syndrome; autosomal recessive dopa-responsive dystonia; epileptic encephalopathy 47; episodic ataxia type II

DOI: 10.3390/jcm9113724

URI: https://oak.ulsan.ac.kr/handle/2021.oak/12076

Publisher: Journal of clinical medicine

Language: 영어

ISSN: 2077-0383

Citation Volume: 9

Citation Number: 11

Citation Start Page: 3724

Citation End Page: 3724

Appears in Collections:: Medicine > Medicine

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