Associated Papers
Biallelic variants in TNR cause neurodevelopmental disorders with variable expressivity.
Ozaki A et al.
Journal of Human Genetics, 2025
Differential intolerance to loss of function and missense mutations in genes that encode human matricellular proteins.
Kaur S et al.
Journal of Cell Communication and Signaling, 2021
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus.
Wagner M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
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