Performance of mutation pathogenicity prediction tools on missense variants associated with 46,XY differences of sex development

OBJECTIVES: Single nucleotide variants (SNVs) are the most common type of genetic variation among humans. High-throughput sequencing methods have recently characterized millions of SNVs in several thousand individuals from various populations, most of which are benign polymorphisms. Identifying rare...

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Veröffentlicht in:Clinics (Sao Paulo)
Hauptverfasser: Montenegro, Luciana R., Lerário, Antônio M., Nishi, Miriam Y., Jorge, Alexander A.L., Mendonca, Berenice B.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Faculdade de Medicina / USP 2021
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Original Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7811835/
https://ncbi.nlm.nih.gov/pubmed/33503178
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.6061/clinics/2021/e2052
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