Associated Papers
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
Elliott AM et al.
Hgg Advances, 2022
Evaluating variants classified as pathogenic in ClinVar in the DDD Study.
Wright CF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33149276 (PubMed )
Supplement: 41436_2020_1021_MOESM1_ESM.xlsx › SuppTable1_Reported
Multiple functions of TBCK protein in neurodevelopment disorders and tumors.
Wu J et al.
Oncology Letters, 2021
Lysosomal dysfunction impairs mitochondrial quality control and is associated with neurodegeneration in TBCK encephaloneuronopathy.
Tintos-Hernández JA et al.
Brain Communications, 2021
Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy.
Ortiz-González XR et al.
Annals of Neurology, 2018
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