The American Journal of Human Genetics
Volume 106, Issue 2, 6 February 2020, Pages 256-263
ReportBi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease
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Keywords
fructose metabolism
cyclic FMN
triokinase
TKFC
rapid genome sequencing
cataracts
cardiomyopathy
innate immunity
inborn error of metabolism
developmental delay
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These authors contributed equally to this work
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These authors contributed equally to this work
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These authors contributed equally to this work
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