Cargando…
Personalized molecular modeling for pinpointing associations of protein dysfunction and variants associated with hereditary cancer syndromes
BACKGROUND: Although the process of reclassification of a variant of uncertain significance can be complex, they are commonly detected through molecular testing. It often takes years before enough clinical data are acquired, and it can be costly and time‐consuming to perform functional analysis of a...
Autores principales: | Macklin, Sarah, Mohammed, Ahmed, Jackson, Jessica, Hines, Stephanie L., Atwal, Paldeep S., Caulfield, Thomas |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6160717/ https://www.ncbi.nlm.nih.gov/pubmed/30043523 http://dx.doi.org/10.1002/mgg3.447 |
Ejemplares similares
-
Examination of Molecular Effects of MYLK Deletion in a Patient with Extensive Aortic, Carotid, and Abdominal Dissections That Underlie the Genetic Dysfunction
por: Macklin, Sarah K., et al.
Publicado: (2020) -
Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling
por: Richter Jr., John E., et al.
Publicado: (2020) -
Protein informatics combined with multiple data sources enriches the clinical characterization of novel TRPV4 variant causing an intermediate skeletal dysplasia
por: Hines, Stephanie L., et al.
Publicado: (2019) -
Protein molecular modeling shows residue T599 is critical to wild-type function of POLG and description of a novel variant associated with the SANDO phenotype
por: Richter, John E, et al.
Publicado: (2018) -
Late onset asymptomatic pancreatic neuroendocrine tumor – A case report on the phenotypic expansion for MEN1
por: Kaiwar, Charu, et al.
Publicado: (2017)