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From uncertain to certain—how to proceed with variants of uncertain significance

Abstract With the increased next generation sequencing (NGS) based genetic diagnosis due to technological boon, the biomedical world is getting a substantial number of single nucleotide variations (SNVs) every day along with other genetic variations. The detected SNVs may or may not have clinical si...

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Principais autores: Emili Banerjee, Suman Pal, Abhijit Biswas, Koutilya Bhattacharjee
格式: Artigo
語言:Inglês
出版: SpringerOpen 2024-08-01
叢編:Middle East Fertility Society Journal
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在線閱讀:https://doi.org/10.1186/s43043-024-00202-9
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