The dataset will be automatically downloaded when running the project for the first time. Predict a Mutation: Choose a valid DNA position to insert a SNP (1 - to gene length), a Reference Nucleotide ...

A new study has unveiled the genetic mechanism controlling citric acid content in jujube fruit, identifying a natural ...

A range of clinically significant alterations occur in cancer genomes ranging from single point mutations to larger areas of copy-number variation or loss of heterozygosity. Reliable detection of ...

Pharmacogenomics. 2013;14(3):15-24.

论文通过对一个伊朗家族的研究，发现了 TMEM53 基因的新型纯合错义变异，为 CTDI 的诊断和治疗提供了新的见解。研究建议早期进行全面的临床和基因评估，并给予适当治疗，这将有助于改善 CTDI 患者的预后。这不仅为该家族患者带来了新的希望，也为未来更多 CTDI 病例的诊治提供了参考依据。