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SUN-035 Performance of Mutation Pathogenicity Prediction Tools on Missense Variants Associated with 46XY Disorders of Sex Development
INTRODUCTION: Single nucleotide variants (SNV) are the most common type of genetic variation among humans. The high-throughput sequencing methods increase the number of identified variants in the human genome but functional studies for disease-associated variants is laborious and time consuming. Dif...
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| 發表在: | J Endocr Soc |
|---|---|
| Main Authors: | , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Endocrine Society
2019
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6553019/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-SUN-035 |
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