Varaico: Literature-Extracted Genetic Variants

Gene:TKFC
Variant:p.G542R
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TKFC

NM_015533.4:p.G542R

Associated Papers

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

Homozygous variant in TKFC abolishing triokinase activities is associated with isolated immunodeficiency.

Tremblay-Laganière C et al.

Journal of Medical Genetics, 2024

Whole-Genome Sequencing of Vero E6 (VERO C1008) and Comparative Analysis of Four Vero Cell Sublines.

Konishi K et al.

Frontiers in Genetics, 2022

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