进行性肌阵挛共济失调近亲家系全外显子测序漏诊原因分析与对策
杨慧, 李云璐, 杨康, 李世举, 何瑾
Misdiagnosis by whole exome sequencing in progressive myoclonic ataxia consanguineous families: causes and strategies
YANG Hui, LI Yunlu, YANG Kang, LI Shiju, HE Jin
诊断学理论与实践
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2022, (04): 456
-461
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DOI: 10.16150/j.1671-2870.2022.04.007