Associated Papers
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.
Josephs KS et al.
Genome Medicine, 2024
Alternative Splicing of the Last TKFC Intron Yields Transcripts Differentially Expressed in Human Tissues That Code In Vitro for a Protein Devoid of Triokinase and FMN Cyclase Activity.
Costas MJ et al.
Biomolecules, 2024
Biallelic TYR and TKFC variants in Egyptian patients with OCA1 and new expanded TKFC features.
Ashaat EA et al.
Bmc Genomics, 2024
Homozygous variant in TKFC abolishing triokinase activities is associated with isolated immunodeficiency.
Tremblay-Laganière C et al.
Journal of Medical Genetics, 2024
The TKFC Ala185Thr variant, reported as 'null' for fructose metabolism, is fully active as triokinase.
Ribeiro JM et al.
Febs Letters, 2022
Gaining Insight into Mitochondrial Genetic Variation and Downstream Pathophysiology: What Can i(PSCs) Do?
Moreira JD et al.
Genes, 2021
Autosomal recessive hypotrichosis with loose anagen hairs associated with TKFC mutations.
Onoufriadis A et al.
The British Journal of Dermatology, 2021
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