罕见变异-话题@MedSci

#罕见变异#

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hrefUrl=https://www.medsci.cn/article/show_article.do?id=184f82248b1)], followStatus=false, userIsMember=false, type=1, lengthMark=0)] 梅斯话题小助手

罕见变异

2020-05-29

梅斯管理员 (审核中...)

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#端粒长度# #遗传结构# #克隆造血# #罕见变异#

Nat Genet：超46万UKB参与者基因数据分析揭示端粒长度与罕见变异、克隆造血基因有关

2024-09-09发表于上海

梅斯管理员 (审核中...)

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#罕见变异# #单基因发育障碍#

Nature Medicine：在非临床人群中揭示稀有变异的累积效应：对认知和社会经济特征的影响

2024-04-24发表于陕西省

夏天与十三菇凉 (审核中...)

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#罕见变异#

Nature发布15万人全基因组测序研究成果，揭示多个罕见变异的性状关联

2022-10-31

夏天与十三菇凉 (审核中...)

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#罕见变异#

JAMA Cardiol：心肌病和心律失常相关基因罕见变异会增加早发型房颤患者的死亡率

2022-05-27

夏天与十三菇凉 (审核中...)

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#罕见变异#

Otolaryngol Head Neck Surg：在一个大的成人群体中利用基因组的方法调查显性语后听力损失基因的罕见变异

2022-02-12

夏天与十三菇凉 (审核中...)

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#罕见变异#

Nat Genet：新突破！百万人荟萃分析发现与血压调节相关的罕见变异

2021-09-22

夏天与十三菇凉 (审核中...)

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#罕见变异#

Blood：剪接体基因罕见变异驱动热点表型变化

2020-09-25

夏天与十三菇凉 (审核中...)

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#罕见变异#

Sci Rep：全外显子罕见变异分析鉴定了3个新的前列腺癌诱发性基因

2020-02-21

夏天与十三菇凉 (审核中...)

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#罕见变异#

Circulation：与扩张型心肌病密切相关的12个基因罕见变异

2020-11-05

夏天与十三菇凉 (审核中...)

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#罕见变异#

Blood：全外显子测序明确STAB2罕见变异与VTE密切相关

2020-12-16

夏天与十三菇凉 (审核中...)

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#罕见变异#

Arthritis rheumatology：LC3B，仅仅是自噬标记物那么简单吗？一个与中国人系统性红斑狼疮有关的罕见变异体

2018-04-05

夏天与十三菇凉 (审核中...)

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#罕见变异#

J Intern Med：与IgA肾病相关的罕见变异研究

2017-10-22

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