Associated Papers
EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.
Laugwitz L et al.
American Journal of Human Genetics, 2025
39753114 (PubMed )
Supplement: mmc2.pdf
Whole-Exome Sequencing Analysis Identified Novel Mutations in the TSPAN12 Gene in Chinese Families with Familial Exudative Vitreoretinopathy.
Yuan Y et al.
Genetic Testing and Molecular Biomarkers, 2019
Germline SDHA mutations in children and adults with cancer.
Dubard Gault M et al.
Cold Spring Harbor Molecular Case Studies, 2018
Functional Genomic Analyses of Mendelian and Sporadic Disease Identify Impaired eIF2α Signaling as a Generalizable Mechanism for Dystonia.
Rittiner JE et al.
Neuron, 2016
Functional variants of the central bile acid sensor FXR identified in intrahepatic cholestasis of pregnancy.
Van Mil SW et al.
Gastroenterology, 2007
Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay.
Urbán Z et al.
Human Genetics, 2000
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