An integrative analysis of functional consequences of PKD2 missense variants on RNA and protein structures: a computational approach

Abstract Background The PKD2, encoding polycystin-2 (PC2) protein, is second major genetic determinant of autosomal dominant polycystic kidney disease (ADPKD) after PKD1. However, the structural and functional consequences of genetic variants in PKD2 remain poorly understood. Given the complexity an...

Deskribapen osoa

Xehetasun bibliografikoak

Egile Nagusiak:	Chandra Devi, Prashant Ranjan, Parimal Das
Formatua:	Artigo
Hizkuntza:	Inglês
Argitaratua:	SpringerOpen 2024-11-01
Saila:	Egyptian Journal of Medical Human Genetics
Gaiak:	PKD2 RNA structure Protein structural dynamics Missense variants Molecular dynamics simulation ADPKD
Sarrera elektronikoa:	https://doi.org/10.1186/s43042-024-00593-4
Etiketak:	Etiketa erantsi Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!