Functional Classification of BRCA2 DNA Variants by Splicing Assays in a Large Minigene with 9 Exons

By  

HUMAN MUTATION, Vol. 36, Iss. 2, 2015-02 ,pp. : 210-221

John Wiley & Sons Inc

Access to resources Recommend Favorite

Mutations of Glucose-6-Phosphate Dehydrogenase Durham, Santa-Maria and A+ Variants Are Associated with Loss Functional and Structural Stability of the Protein

By Gómez-Manzo Saúl   Marcial-Quino Jaime   Vanoye-Carlo America   Enríquez-Flores Sergio   De la Mora-De la Mora Ignacio   González-Valdez Abigail   García-Torres Itzhel   Martínez-Rosas Víctor   Sierra-Palacios Edgar   Lazcano-Pérez Fernando   Rodríguez-Bustamante Eduardo   Arreguin-Espinosa Roberto  

International Journal of Molecular Sciences, Vol. 16, Iss. 12, 2015-12 ,pp. : 28657-28668

MDPI

Access to resources Recommend Favorite

Gain‐of‐function HCN2 variants in genetic epilepsy

By  

HUMAN MUTATION, Vol. 39, Iss. 2, 2018-02 ,pp. : 202-209

John Wiley & Sons Inc

Access to resources Recommend Favorite

Non-linear, non-invasive method for seizure anticipation in focal epilepsy

By Li D.   Zhou W.   Drury I.   Savit R.  

Mathematical Biosciences, Vol. 186, Iss. 1, 2003-11 ,pp. : 63-77

Elsevier

Access to resources Recommend Favorite

Multiple Functional Variants in cis Modulate PDYN Expression

By Babbitt Courtney C.   Silverman Jesse S.   Haygood Ralph   Reininga Jennifer M.   Rockman Matthew V.   Wray Gregory A.  

Molecular Biology and Evolution, Vol. 27, Iss. 2, 2010-02 ,pp. : 465-479

Oxford University Press

Access to resources Recommend Favorite