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资源简介：
a MEN1 gene heterozygous germline mutation
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创建时间：
2022-11-10
相关数据集
Genetic mutations in the VWD patients studied.
Genetic mutations in the VWD patients studied.
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Additional file 3 of Personalised modelling of clinical heterogeneity between medium-chain acyl-CoA dehydrogenase patients
Additional file 3: Table S1. Sanger Sequencing HepG2. Results of genotyping WT HepG2 cells and four MCAD-knockouts.
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WES sequecning of AI family in China
This study aimed to identify the candidate gene for amelogenesis imperfecta in a Chinese pedigree and analyze the mutation effect.
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Summary of reported RET double mutations associated with MEN 2.
Summary of reported RET double mutations associated with MEN 2.
Figshare2015-12-02 更新50
Table_1_Case Report: Whole Exome Sequencing Revealed Two Novel Mutations of PIEZO1 Implicated in Nonimmune Hydrops Fetalis.DOCX
Nonimmune hydrops fetalis (NIHF) is a serious and complex fetal condition. Prenatal diagnosis of hydrops fetalis is not difficult by ultrasound. However, determining the underlying etiology of NIHF re
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