RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31

Aren E. Marshall; Gabrielle Lemire; Yijing LiangJorge DavilaMadeline CouseKym M. BoycottKristin D. Kernohan

首页> 外文期刊>American journal of medical genetics, Part A >RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31

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RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31

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《American journal of medical genetics, Part A》 |2024年第4期|e63485-e63485|共6页
作者
Aren E. Marshall; Gabrielle Lemire; Yijing LiangJorge DavilaMadeline CouseKym M. BoycottKristin D. Kernohan;
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Cancer Biology & Genetics Program, Memorial Sloan Kettering Cancer CenterRadboud Institute for;

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正文语种英语
中图分类医学遗传学;
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6. Increasing diagnostic yield by RNA-Sequencing in rare disease—bypass hurdles of interpreting intronic or splice-altering variants [O] . Dong Li, Lifeng Tian, Hakon Hakonarson 2018

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7. Novel biallelic loss-of-function variants in CEP290 cause Joubert syndrome in two siblings [O] . Xiang Wang, Zhu Zhang, Xueguang Zhang, 2020

机译：CEP290的新型双胞胎丧失功能变体导致两个兄弟姐妹的Joubert综合征

RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31

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