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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Detalles Bibliográficos
Autores principales: Montenegro, Luciana, Lerario, Antonio, Nishi, Mirian, Mendonca, Berenice
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrine Society 2019
Materias:
Genetics and Development (including Gene Regulation)
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6553019/
http://dx.doi.org/10.1210/js.2019-SUN-035

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6553019/
http://dx.doi.org/10.1210/js.2019-SUN-035

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