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Identification of mutations in cell-free DNA in patients with pulmonary lymphangioleiomyomatosis
Lymphangioleiomyomatosis (LAM) is a rare systematic disease of women. Genetic alterations of LAM under treatment has not been well studied primarily due to lack of biopsy specimens making appropriate
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Table_3_Sub-Exome Target Sequencing in a Family With Syndactyly Type IV Due to a Novel Partial Duplication of the LMBR1 Gene: First Case Report in Fujian Province of China.xlsx
Syndactyly is one of the most frequent hereditary limb malformations with clinical and genetical complexity. Autosomal dominant syndactyly type IV (SD4) is a rare form of syndactyly, caused by heteroz
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Rare Disease Genetic Testing Market
Rare Disease Genetic Testing comes with extensive industry analysis of development components, patterns, flows, and sizes. The report calculates present and past market values to forecast potential ma
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INSIGHT: VHL Case Report
The overall goal of this study is to uncover contributors to inherited cancer through analysis of individuals and families with, or at risk of, a hereditary cancer syndrome. In addition, we hope to el
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