官方服务:
资源简介:
The studies may lead to a better understanding of MFS pathogenesis at the molecular level
应用场景:
创建时间:
2021-04-05
相关数据集
Additional file 2: of The altered activity of P53 signaling pathway by STK11 gene mutations and its cancer phenotype in Peutz-Jeghers syndrome
Figure S1. Flow diagram of patients enrollment. PJS indicates Peutz-Jeghers syndrome. Figue S2. The predicted protein structure of 8 truncating mutations (A) and the PolyPhen-2 prediction results for
Figshare2024-02-12 更新70
Molecular dynamics simulations to decipher the structural and functional consequences of pathogenic missense mutations in the galactosylceramidase (GALC) protein causing Krabbe’s disease
Krabbe disease (KD), also known as globoid cell leukodystrophy disease, is an autosomal recessive lysosomal storage genetic disorder, which is caused by the deficiency of galactocerebrosidase (GALC) c
Taylor & Francis Group2021-03-08 更新40
The miRNAs whose expressions were changed in hepatocellular injury, cholestasis and steatosis.
The miRNAs whose expressions were changed in hepatocellular injury, cholestasis and steatosis.
Figshare2015-12-02 更新30
DataSheet1_Three Novel De Novo ZEB2 Variants Identified in Three Unrelated Chinese Patients With Mowat-Wilson Syndrome and A Systematic Review.xls
Background:ZEB2 gene mutations or deletions cause Mowat-Wilson syndrome (MWS), which is characterized by distinctive facial features, global developmental delay, intellectual disability, epilepsy, fri
NIAID Data Ecosystem70
Factors associated with increased odds of harboring a pathogenic mutation (N = 460).
Factors associated with increased odds of harboring a pathogenic mutation (N = 460).
NIAID Data Ecosystem40



