Penetrance相关论文
Penetrance estimation of PRRT2 variants in paroxysmal kinesigenic dyskinesia and infantile convulsio
Proline-rich transmembrane protein 2(PRRT2)is the leading cause of paroxysmal kinesigenic dyskinesia(PKD),benign familia......
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目的明确一国人低外显率视网膜母细胞瘤(RB)家系基因突变位点。方法对一个3代9人的汉族RB家系成员进行临床观察。采集家系中6人外......
Leber遗传性视神经病变变（Leber’s hereditary optic neuropathy，LHON）是一种与线粒体DNA（Mito-chondrialDNA，mtDNA）突变相关的母系遗传......
为了提高杂交小麦的繁制种效益，选用具有不同山羊草细胞质的同质同核、同质异核、异质同核多子房小麦为试验材料，于成熟期调查多子房......
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目的探讨基因分型错误对病例对照方法估计疾病外显率的影响及其程度。方法将描述基因分型错误的数学模型整合到基于病例对照样本的......
A genetic association between single nucleotide polymorphisms (SNPs) and pulmonary hypertension syndrome (PHS) was estab......
Purpose: The past decade has seen rapid acceleration in the public’s access to Whole Genome Sequencing (WGS) technology......
