Associated Papers
Aberrant proteins expressed in skin fibroblasts of Parkinson's disease patients carrying heterozygous variants of glucocerebrosidase and parkin genes.
Sawangareetrakul P et al.
Biomedical Reports, 2021
Filamin B Loss-of-Function Mutation in Dimerization Domain Causes Autosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies.
Yang CF et al.
Human Mutation, 2017
Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same FLNB residue.
Li BC et al.
American Journal of Medical Genetics. Part A, 2013
Select a paper to view details